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

Gene ID: 9720, updated on 26-Oct-2022

Summary

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
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Genomic context

See CCDC144A in Genome Data Viewer
Location:
17p11.2
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16666717..16777881)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16592446..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 uncharacterized LOC124903934 Neighboring gene NIMA-related kinase 4 pseudogene 2 Neighboring gene ribonuclease H1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 405, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 620, pseudogene 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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

    Status: VALIDATED

    Source sequence(s)
    AC098850
    Consensus CDS
    CCDS92264.1
    UniProtKB/TrEMBL
    F6VR44
    Related
    ENSP00000382215.1, ENST00000399273.5
    Conserved Domains (3) summary
    TIGR02168
    Location:4661279
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12001
    Location:12441354
    DUF3496; Domain of unknown function (DUF3496)
    pfam14915
    Location:8221124
    CCDC144C; CCDC144C protein coiled-coil region
  2. NM_014695.3NP_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, Q6ZU57
    UniProtKB/TrEMBL
    B7ZM27
    Related
    ENSP00000353717.8, ENST00000360524.12
    Conserved Domains (2) summary
    pfam12001
    Location:12441354
    DUF3496; Domain of unknown function (DUF3496)
    pfam14915
    Location:8221123
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017025429.3XP_016880918.1  coiled-coil domain-containing protein 144A isoform X1

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

  3. XM_047437149.1XP_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
    16592446..16680603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)