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    CCDC144A coiled-coil domain containing 144A [ Homo sapiens (human) ]

    Gene ID: 9720, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC144Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 144Aprovided by HGNC
    Primary source
    HGNC:HGNC:29072
    See related
    Ensembl:ENSG00000170160 MIM:619413; AllianceGenome:HGNC:29072
    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
    Summary
    Predicted to enable calcium oxalate binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 5.8), bone marrow (RPKM 1.8) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CCDC144A in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16666717..16777881)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16568927..16680603)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16593555..16681195)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SRSF6 pseudogene 2 Neighboring gene zinc finger protein 624 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16556408-16556918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8228 Neighboring gene uncharacterized LOC124903934 Neighboring gene NIMA-related kinase 4 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16590257-16590757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16592545-16593448 Neighboring gene ribonuclease H1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 405, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 620, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16654874-16655606 Neighboring gene UPF3A pseudogene 1 Neighboring gene ubiquitin specific peptidase 32 pseudogene 1 Neighboring gene signal recognition particle 68 pseudogene 1 Neighboring gene family with sequence similarity 106 member C

    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. Human kidney stone matrix proteins alleviate hyperoxaluria induced renal stress by targeting cell-crystal interactions. Narula S, et al. Life Sci, 2020 Dec 1. PMID 32991878
    2. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Park SS, et al. Genome Res, 2002 May. PMID 11997339, Free PMC Article
    3. Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. Li Q, et al. Tumour Biol, 2016 Sep. PMID 27337956
    4. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
    5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    • FLJ43983, KIAA0565, MGC164650

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium oxalate binding RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 144A

    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_001382000.1 → NP_001368929.1  coiled-coil domain-containing protein 144A isoform b

      Status: VALIDATED

      Source sequence(s)
      AC098850
      Consensus CDS
      CCDS92264.1
      UniProtKB/TrEMBL
      B7ZM27, C9JT67, F6VR44
      Related
      ENSP00000382215.1, ENST00000399273.5
      Conserved Domains (3) summary
      TIGR02168
      Location:466 → 1279
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12001
      Location:1244 → 1354
      DUF3496; Domain of unknown function (DUF3496)
      pfam14915
      Location:822 → 1124
      CCDC144C; CCDC144C protein coiled-coil region

    2. NM_014695.3 → NP_055510.1  coiled-coil domain-containing protein 144A isoform a

      See identical proteins and their annotated locations for NP_055510.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC098850, BC133019, BC144225
      Consensus CDS
      CCDS45621.1
      UniProtKB/Swiss-Prot
      A2RUR9, O60311, Q6ZU57
      UniProtKB/TrEMBL
      B7ZM27
      Related
      ENSP00000353717.8, ENST00000360524.12
      Conserved Domains (2) summary
      pfam12001
      Location:1244 → 1354
      DUF3496; Domain of unknown function (DUF3496)
      pfam14915
      Location:822 → 1123
      CCDC144C; CCDC144C protein coiled-coil region

    RNA

    1. NR_130142.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three internal exons and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC098850, BC144224, BC144225

    2. NR_167766.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098850

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16666717..16777881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025429.3 → XP_016880918.1  coiled-coil domain-containing protein 144A isoform X1

      UniProtKB/TrEMBL
      A0A8V8TL21

    2. XM_017025430.2 → XP_016880919.1  coiled-coil domain-containing protein 144A isoform X3

      UniProtKB/TrEMBL
      B7ZM27

    3. XM_047437149.1 → XP_047293105.1  coiled-coil domain-containing protein 144A isoform X2

      Related
      ENSP00000353685.5, ENST00000360495.9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16568927..16680603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317966.1 → XP_054173941.1  coiled-coil domain-containing protein 144A isoform X1

    2. XM_054317968.1 → XP_054173943.1  coiled-coil domain-containing protein 144A isoform X3

    3. XM_054317967.1 → XP_054173942.1  coiled-coil domain-containing protein 144A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RUR9.1 GenPept UniProtKB/Swiss-Prot:A2RUR9

    Gene LinkOut

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

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