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    LCA5L lebercilin LCA5 like [ Homo sapiens (human) ]

    Gene ID: 150082, updated on 9-Dec-2024

    Summary

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    Official Symbol
    LCA5Lprovided by HGNC
    Official Full Name
    lebercilin LCA5 likeprovided by HGNC
    Primary source
    HGNC:HGNC:1255
    See related
    Ensembl:ENSG00000157578 AllianceGenome:HGNC:1255
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C21orf13
    Summary
    Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 36.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See LCA5L in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39405728..39445778, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37790313..37830401, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40777654..40817704, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372804 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40723570-40723774 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40731973-40732197 Neighboring gene GET1-SH3BGR readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18468 Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18469 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40823338-40823876 Neighboring gene microRNA 6508 Neighboring gene SH3 domain binding glutamate rich protein Neighboring gene MYL6 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. den Hollander AI, et al. Nat Genet, 2007 Jul. PMID 17546029
    2. Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners. Alves da Silva AF, et al. PLoS One, 2016. PMID 27100087, Free PMC Article
    3. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    4. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33295

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    lebercilin-like protein
    Names
    LCA5L, lebercilin like
    leber congenital amaurosis 5-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001384285.1 → NP_001371214.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    2. NM_001384286.1 → NP_001371215.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    3. NM_001384287.1 → NP_001371216.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    4. NM_001384288.1 → NP_001371217.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    5. NM_001384289.1 → NP_001371218.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    6. NM_001384291.1 → NP_001371220.1  lebercilin-like protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-7 all encode the same isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Related
      ENSP00000351008.2, ENST00000358268.6
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    7. NM_001384292.1 → NP_001371221.1  lebercilin-like protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 9-12, encodes isoform b.
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    8. NM_001384293.1 → NP_001371222.1  lebercilin-like protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    9. NM_001384294.1 → NP_001371223.1  lebercilin-like protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    10. NM_001384295.1 → NP_001371224.1  lebercilin-like protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    11. NM_001384296.1 → NP_001371225.1  lebercilin-like protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 8. Variants 8-12 all encode the same isoform (b).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    12. NM_001384297.1 → NP_001371226.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 14-18, encodes isoform c.
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    13. NM_001384298.1 → NP_001371227.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    14. NM_001384299.1 → NP_001371228.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    15. NM_001384300.1 → NP_001371229.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    16. NM_001384301.1 → NP_001371230.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    17. NM_001384302.1 → NP_001371231.1  lebercilin-like protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) differs in the 5' UTR compared to variant 13. Variants 13-18 all encode the same isoform (c).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS93098.1
      UniProtKB/TrEMBL
      U3KPS7
      Related
      ENSP00000475187.1, ENST00000485895.6
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 279
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    18. NM_001384303.1 → NP_001371232.1  lebercilin-like protein isoform d

      Status: VALIDATED

      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 195
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    19. NM_001384304.1 → NP_001371233.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 21-29, encodes isoform e.
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    20. NM_001384305.1 → NP_001371234.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    21. NM_001384306.1 → NP_001371235.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    22. NM_001384307.1 → NP_001371236.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    23. NM_001384308.1 → NP_001371237.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    24. NM_001384309.1 → NP_001371238.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    25. NM_001384310.1 → NP_001371239.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    26. NM_001384311.1 → NP_001371240.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    27. NM_001384312.1 → NP_001371241.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    28. NM_001384313.1 → NP_001371242.1  lebercilin-like protein isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29) differs in the 5' UTR compared to variant 20. Variants 20-29 all encode the same isoform (e).
      Source sequence(s)
      AF121781
      Conserved Domains (1) summary
      pfam15619
      Location:16 → 149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    29. NM_152505.4 → NP_689718.1  lebercilin-like protein isoform a

      See identical proteins and their annotated locations for NP_689718.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 2-7, encodes the longest isoform (a).
      Source sequence(s)
      AF121781
      Consensus CDS
      CCDS13665.1
      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Related
      ENSP00000288350.3, ENST00000288350.8
      Conserved Domains (1) summary
      pfam15619
      Location:146 → 331
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      39405728..39445778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529470.2 → XP_011527772.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527772.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. XM_011529465.2 → XP_011527767.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527767.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_047440694.1 → XP_047296650.1  lebercilin-like protein isoform X1

    4. XM_011529462.2 → XP_011527764.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527764.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    5. XM_047440686.1 → XP_047296642.1  lebercilin-like protein isoform X1

    6. XM_047440697.1 → XP_047296653.1  lebercilin-like protein isoform X3

      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0
      Related
      ENSP00000370046.2, ENST00000380671.6

    7. XM_011529468.2 → XP_011527770.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527770.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    8. XM_011529464.2 → XP_011527766.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527766.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    9. XM_047440685.1 → XP_047296641.1  lebercilin-like protein isoform X1

    10. XM_011529459.2 → XP_011527761.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527761.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    11. XM_017028274.2 → XP_016883763.1  lebercilin-like protein isoform X4

      Conserved Domains (1) summary
      pfam15619
      Location:16 → 201
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    12. XM_047440696.1 → XP_047296652.1  lebercilin-like protein isoform X3

      UniProtKB/Swiss-Prot
      D3DSI0, O95447, Q3ZCT0

    13. XM_047440695.1 → XP_047296651.1  lebercilin-like protein isoform X2

    14. XM_047440684.1 → XP_047296640.1  lebercilin-like protein isoform X1

    15. XM_011529467.2 → XP_011527769.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527769.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    16. XM_047440689.1 → XP_047296645.1  lebercilin-like protein isoform X1

    17. XM_011529461.2 → XP_011527763.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527763.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    18. XM_011529460.2 → XP_011527762.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527762.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    19. XM_047440690.1 → XP_047296646.1  lebercilin-like protein isoform X1

    20. XM_047440687.1 → XP_047296643.1  lebercilin-like protein isoform X1

    21. XM_011529466.2 → XP_011527768.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527768.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    22. XM_011529463.3 → XP_011527765.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527765.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    23. XM_047440692.1 → XP_047296648.1  lebercilin-like protein isoform X1

    24. XM_047440693.1 → XP_047296649.1  lebercilin-like protein isoform X1

    25. XM_011529458.2 → XP_011527760.1  lebercilin-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527760.1

      Conserved Domains (2) summary
      pfam15619
      Location:195 → 374
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl12013
      Location:206 → 299
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    26. XM_047440691.1 → XP_047296647.1  lebercilin-like protein isoform X1

    27. XM_047440688.1 → XP_047296644.1  lebercilin-like protein isoform X1

    28. XM_047440698.1 → XP_047296654.1  lebercilin-like protein isoform X5

      UniProtKB/TrEMBL
      U3KPS7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37790313..37830401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324356.1 → XP_054180331.1  lebercilin-like protein isoform X1

    2. XM_054324353.1 → XP_054180328.1  lebercilin-like protein isoform X1

    3. XM_054324352.1 → XP_054180327.1  lebercilin-like protein isoform X1

    4. XM_054324340.1 → XP_054180315.1  lebercilin-like protein isoform X1

    5. XM_054324338.1 → XP_054180313.1  lebercilin-like protein isoform X1

    6. XM_054324359.1 → XP_054180334.1  lebercilin-like protein isoform X3

    7. XM_054324355.1 → XP_054180330.1  lebercilin-like protein isoform X1

    8. XM_054324337.1 → XP_054180312.1  lebercilin-like protein isoform X1

    9. XM_054324336.1 → XP_054180311.1  lebercilin-like protein isoform X1

    10. XM_054324360.1 → XP_054180335.1  lebercilin-like protein isoform X4

    11. XM_054324358.1 → XP_054180333.1  lebercilin-like protein isoform X3

    12. XM_054324357.1 → XP_054180332.1  lebercilin-like protein isoform X2

    13. XM_054324335.1 → XP_054180310.1  lebercilin-like protein isoform X1

    14. XM_054324354.1 → XP_054180329.1  lebercilin-like protein isoform X1

    15. XM_054324345.1 → XP_054180320.1  lebercilin-like protein isoform X1

    16. XM_054324342.1 → XP_054180317.1  lebercilin-like protein isoform X1

    17. XM_054324339.1 → XP_054180314.1  lebercilin-like protein isoform X1

    18. XM_054324346.1 → XP_054180321.1  lebercilin-like protein isoform X1

    19. XM_054324344.1 → XP_054180319.1  lebercilin-like protein isoform X1

    20. XM_054324350.1 → XP_054180325.1  lebercilin-like protein isoform X1

    21. XM_054324351.1 → XP_054180326.1  lebercilin-like protein isoform X1

    22. XM_054324348.1 → XP_054180323.1  lebercilin-like protein isoform X1

    23. XM_054324349.1 → XP_054180324.1  lebercilin-like protein isoform X1

    24. XM_054324341.1 → XP_054180316.1  lebercilin-like protein isoform X1

    25. XM_054324347.1 → XP_054180322.1  lebercilin-like protein isoform X1

    26. XM_054324343.1 → XP_054180318.1  lebercilin-like protein isoform X1

    27. XM_054324361.1 → XP_054180336.1  lebercilin-like protein isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95447.1 GenPept UniProtKB/Swiss-Prot:O95447

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