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

    Gene ID: 91050, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    4p15.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (24803514..24980204, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (24785445..24962121, complement)
    105.20220307 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)

    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

    • 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_2023_10

    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

      See identical proteins and their annotated locations for XP_011512210.1

      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

      See identical proteins and their annotated locations for XP_011512209.1

      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

    Gene LinkOut

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