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

Gene ID: 9720, updated on 3-Apr-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
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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Location:
17p11.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16666717..16777881)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16568927..16680603)
105.20220307 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 (7) 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)

Genotypes

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_2023_10

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

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