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CCDC149 coiled-coil domain containing 149 [ Homo sapiens (human) ]

Gene ID: 91050, updated on 27-Nov-2024

Summary

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Official Symbol
CCDC149provided by HGNC
Official Full Name
coiled-coil domain containing 149provided by HGNC
Primary source
HGNC:HGNC:25405
See related
Ensembl:ENSG00000181982 AllianceGenome:HGNC:25405
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 brain (RPKM 7.3), ovary (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC149 in Genome Data Viewer
Location:
4p15.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (24803514..24980204, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (24785445..24962121, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (24805136..24981826, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:24801347-24801847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24810365-24810945 Neighboring gene superoxide dismutase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858054-24858554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858555-24859055 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24864823-24866022 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24870157-24871356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24918461-24919030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24919031-24919599 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24966942-24968141 Neighboring gene uncharacterized LOC102723675 Neighboring gene leucine rich repeat LGI family member 2 Neighboring gene uncharacterized LOC124900684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:25086876-25087376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:25087377-25087877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:25089726-25090269 Neighboring gene uncharacterized LOC105374534

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. Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia. Christoforou A, et al. Mol Psychiatry, 2007 Nov. PMID 17457313
  2. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
  3. Protein microarray analysis identifies human cellular prion protein interactors. Satoh J, et al. Neuropathol Appl Neurobiol, 2009 Feb. PMID 18482256
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia.
Submit: New GeneRIF Correction

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
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
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

Clone Names

  • FLJ13410, DKFZp761B107

General protein information

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Preferred Names
coiled-coil domain-containing protein 149

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_001130726.5 → NP_001124198.2  coiled-coil domain-containing protein 149 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC006390, AC116422
    Consensus CDS
    CCDS47036.2
    UniProtKB/TrEMBL
    A0A8V8PSJ6
    Related
    ENSP00000425715.2, ENST00000504487.5
    Conserved Domains (2) summary
    TIGR01612
    Location:146 → 451
    235kDa-fam; reticulocyte binding/rhoptry protein
    COG1196
    Location:21 → 263
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. NM_001330644.2 → NP_001317573.1  coiled-coil domain-containing protein 149 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC006390, AC116422, AK296454, AL545064, BQ671265, CB243678, DB500831
    UniProtKB/Swiss-Prot
    A6NJE7, B4DK90, B4DZG3, G5EA04, Q6NW41, Q6ZUS6, Q8N3K8

  3. NM_001395273.1 → NP_001382202.1  coiled-coil domain-containing protein 149 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC006390, AC116422, AK296454, AL545064, CB243678, DB500831
    Consensus CDS
    CCDS82914.2
    UniProtKB/TrEMBL
    A0A0U1RQD2
    Related
    ENSP00000488929.2, ENST00000635206.3
    Conserved Domains (1) summary
    COG1196
    Location:21 → 276
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  4. NM_173463.6 → NP_775734.2  coiled-coil domain-containing protein 149 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC006390, AK302905, CB243678, DB244172
    Consensus CDS
    CCDS33967.2
    UniProtKB/Swiss-Prot
    Q6ZUS6
    Related
    ENSP00000374260.4, ENST00000389609.8
    Conserved Domains (2) summary
    pfam09789
    Location:26 → 338
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    cl00459
    Location:91 → 211
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    24803514..24980204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513908.3 → XP_011512210.1  coiled-coil domain-containing protein 149 isoform X3

    Conserved Domains (2) summary
    pfam09789
    Location:1 → 283
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    cl00459
    Location:36 → 156
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

  2. XM_011513907.4 → XP_011512209.1  coiled-coil domain-containing protein 149 isoform X3

    Conserved Domains (2) summary
    pfam09789
    Location:1 → 283
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    cl00459
    Location:36 → 156
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

  3. XM_017008827.3 → XP_016864316.1  coiled-coil domain-containing protein 149 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZUS6
    Conserved Domains (2) summary
    pfam09789
    Location:26 → 338
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    cl00459
    Location:91 → 211
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

  4. XM_011513906.4 → XP_011512208.1  coiled-coil domain-containing protein 149 isoform X1

    Conserved Domains (2) summary
    pfam09789
    Location:26 → 338
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    cl00459
    Location:91 → 211
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    24785445..24962121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351222.1 → XP_054207197.1  coiled-coil domain-containing protein 149 isoform X3

  2. XM_054351221.1 → XP_054207196.1  coiled-coil domain-containing protein 149 isoform X3

  3. XM_054351220.1 → XP_054207195.1  coiled-coil domain-containing protein 149 isoform X2

  4. XM_054351219.1 → XP_054207194.1  coiled-coil domain-containing protein 149 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001330643.2: Suppressed sequence

    Description
    NM_001330643.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZUS6.2 GenPept UniProtKB/Swiss-Prot:Q6ZUS6

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