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    KIAA1328 KIAA1328 [ Homo sapiens (human) ]

    Gene ID: 57536, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIAA1328provided by HGNC
    Official Full Name
    KIAA1328provided by HGNC
    Primary source
    HGNC:HGNC:29248
    See related
    Ensembl:ENSG00000150477 MIM:616480; AllianceGenome:HGNC:29248
    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
    Expression
    Ubiquitous expression in ovary (RPKM 1.6), testis (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1328 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36829127..37232172)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (37022186..37425243)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (34409090..34812135)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene formin homology 2 domain containing 3 Neighboring gene uncharacterized LOC105372071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13241 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34254255-34254481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34287179-34287680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13242 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34349653-34349798 Neighboring gene NANOG hESC enhancer GRCh37_chr18:34367445-34367994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:34408535-34409327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13243 Neighboring gene uncharacterized LOC105372069 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34527890-34528524 Neighboring gene uncharacterized LOC124904287 Neighboring gene VISTA enhancer hs590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:34745369-34745869 Neighboring gene Sharpr-MPRA regulatory region 1146 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34798477-34798995 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:34797958-34798476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34829500-34830000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34830001-34830501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9407 Neighboring gene uncharacterized LOC105372068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34885971-34886552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34902991-34903527 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34921466-34922026 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34942069-34943065 Neighboring gene CUGBP Elav-like family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34948255-34949075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34952714-34953502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34953503-34954289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34983317-34984180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35001359-35001962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35009620-35010464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35031250-35032144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35044533-35045032 Neighboring gene small nucleolar RNA, H/ACA box 111

    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. Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3. Patel CA, et al. BMC Cell Biol, 2005 Jan 18. PMID 15656913, Free PMC Article
    2. Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. Barone R, et al. Am J Med Genet A, 2017 Jun. PMID 28407444
    3. Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. Drew K, et al. Mol Syst Biol, 2017 Jun 8. PMID 28596423, Free PMC Article
    4. Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. Shaffer JR, et al. G3 (Bethesda), 2014 Feb 19. PMID 24347629, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198

    See all (18) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein hinderin
    Names
    hinderin

    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_001322327.2 → NP_001309256.1  protein hinderin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC023577, BX648875
      UniProtKB/TrEMBL
      B4E2D7
      Conserved Domains (1) summary
      pfam15369
      Location:3 → 302
      KIAA1328; uncharacterized protein KIAA1328

    2. NM_001353918.2 → NP_001340847.1  protein hinderin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577
      UniProtKB/TrEMBL
      A8K8C3
      Conserved Domains (1) summary
      pfam15369
      Location:93 → 405
      KIAA1328; Uncharacterized protein KIAA1328

    3. NM_001353919.2 → NP_001340848.1  protein hinderin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577
      UniProtKB/TrEMBL
      B4E2D7
      Conserved Domains (1) summary
      pfam15369
      Location:3 → 301
      KIAA1328; Uncharacterized protein KIAA1328

    4. NM_001353920.2 → NP_001340849.1  protein hinderin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577
      Conserved Domains (1) summary
      pfam15369
      Location:1 → 125
      KIAA1328; Uncharacterized protein KIAA1328

    5. NM_020776.3 → NP_065827.1  protein hinderin isoform 1

      See identical proteins and their annotated locations for NP_065827.1

      Status: VALIDATED

      Source sequence(s)
      AB037749, AC015961, AL832625, BC008670, BC037903, BC045585, BX648875
      Consensus CDS
      CCDS45855.1
      UniProtKB/Swiss-Prot
      Q05DL0, Q49AG6, Q86T90, Q9P2L8
      UniProtKB/TrEMBL
      A8K8C3
      Related
      ENSP00000280020.5, ENST00000280020.10
      Conserved Domains (1) summary
      pfam15369
      Location:93 → 410
      KIAA1328; uncharacterized protein KIAA1328

    RNA

    1. NR_136303.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577

    2. NR_136304.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577

    3. NR_136305.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009854, AC015961, AC016493, AC023577

    4. NR_148565.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009854, BC045585
      Related
      ENST00000592521.5

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      36829127..37232172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437678.1 → XP_047293634.1  protein hinderin isoform X2

    2. XM_047437680.1 → XP_047293636.1  protein hinderin isoform X4

    3. XM_047437677.1 → XP_047293633.1  protein hinderin isoform X2

    4. XM_047437679.1 → XP_047293635.1  protein hinderin isoform X3

    5. XM_005258318.6 → XP_005258375.1  protein hinderin isoform X4

      See identical proteins and their annotated locations for XP_005258375.1

      UniProtKB/TrEMBL
      A8K8C3
      Related
      ENSP00000466355.1, ENST00000587139.5
      Conserved Domains (1) summary
      pfam15369
      Location:48 → 365
      KIAA1328; uncharacterized protein KIAA1328

    6. XM_005258315.6 → XP_005258372.3  protein hinderin isoform X1

    7. XM_011526100.4 → XP_011524402.3  protein hinderin isoform X5

    8. XM_017025876.2 → XP_016881365.1  protein hinderin isoform X2

      UniProtKB/TrEMBL
      A8K8C3

    9. XM_005258317.4 → XP_005258374.1  protein hinderin isoform X3

      See identical proteins and their annotated locations for XP_005258374.1

      UniProtKB/TrEMBL
      A8K8C3
      Related
      ENSP00000465550.1, ENST00000591619.5
      Conserved Domains (1) summary
      pfam15369
      Location:89 → 406
      KIAA1328; uncharacterized protein KIAA1328

    10. XM_011526099.3 → XP_011524401.1  protein hinderin isoform X4

      See identical proteins and their annotated locations for XP_011524401.1

      UniProtKB/TrEMBL
      A8K8C3
      Conserved Domains (1) summary
      pfam15369
      Location:48 → 365
      KIAA1328; uncharacterized protein KIAA1328

    11. XM_017025881.2 → XP_016881370.1  protein hinderin isoform X6

      UniProtKB/TrEMBL
      B4E2D7
      Conserved Domains (1) summary
      pfam15369
      Location:1 → 233
      KIAA1328; uncharacterized protein KIAA1328

    12. XM_047437681.1 → XP_047293637.1  protein hinderin isoform X6

    13. XM_047437682.1 → XP_047293638.1  protein hinderin isoform X6

    14. XM_017025879.2 → XP_016881368.1  protein hinderin isoform X6

      UniProtKB/TrEMBL
      B4E2D7
      Conserved Domains (1) summary
      pfam15369
      Location:1 → 233
      KIAA1328; uncharacterized protein KIAA1328

    15. XM_017025880.2 → XP_016881369.1  protein hinderin isoform X6

      UniProtKB/TrEMBL
      B4E2D7
      Conserved Domains (1) summary
      pfam15369
      Location:1 → 233
      KIAA1328; uncharacterized protein KIAA1328

    16. XM_047437683.1 → XP_047293639.1  protein hinderin isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      37022186..37425243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318873.1 → XP_054174848.1  protein hinderin isoform X2

    2. XM_054318870.1 → XP_054174845.1  protein hinderin isoform X1

    3. XM_054318879.1 → XP_054174854.1  protein hinderin isoform X5

    4. XM_054318872.1 → XP_054174847.1  protein hinderin isoform X2

    5. XM_054318874.1 → XP_054174849.1  protein hinderin isoform X3

    6. XM_054318878.1 → XP_054174853.1  protein hinderin isoform X4

    7. XM_054318876.1 → XP_054174851.1  protein hinderin isoform X4

    8. XM_054318871.1 → XP_054174846.1  protein hinderin isoform X2

    9. XM_054318875.1 → XP_054174850.1  protein hinderin isoform X3

    10. XM_054318877.1 → XP_054174852.1  protein hinderin isoform X4

    11. XM_054318883.1 → XP_054174858.1  protein hinderin isoform X6

    12. XM_054318880.1 → XP_054174855.1  protein hinderin isoform X6

    13. XM_054318881.1 → XP_054174856.1  protein hinderin isoform X6

    14. XM_054318882.1 → XP_054174857.1  protein hinderin isoform X6

    15. XM_054318884.1 → XP_054174859.1  protein hinderin isoform X6

    16. XM_054318885.1 → XP_054174860.1  protein hinderin isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86T90.2 GenPept UniProtKB/Swiss-Prot:Q86T90

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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