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CFAP144P1 CFAP144 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 340286, updated on 23-Nov-2023

Summary

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Official Symbol
CFAP144P1provided by HGNC
Official Full Name
CFAP144 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:34511
See related
Ensembl:ENSG00000164556 AllianceGenome:HGNC:34511
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THEG6; FAM183B; FAM183BP
Summary
Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 7.5) See more
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Genomic context

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See CFAP144P1 in Genome Data Viewer
Location:
7p14.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (38685346..38687089, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (38842029..38843772, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38724946..38726689, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene amphiphysin Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:38629347-38629908 Neighboring gene RNA, 7SL, cytoplasmic 83, pseudogene Neighboring gene keratin 8 pseudogene 20 Neighboring gene VPS41 subunit of HOPS complex Neighboring gene MPRA-validated peak6495 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38925534-38926050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38926051-38926567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25874 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:38989846-38991045 Neighboring gene POU6F2 antisense RNA 2 Neighboring gene POU class 6 homeobox 2

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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Other Names

  • Protein FAM183B
  • acyloxyacyl hydrolase (neutrophil)
  • family with sequence similarity 183 member B, pseudogene
  • family with sequence similarity 183, member B
  • testis highly expressed protein 6

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in ciliary base IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

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.

RNA

  1. NR_028347.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC011309
    Related
    ENST00000409072.3

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    38685346..38687089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    38842029..38843772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001105282.2: Suppressed sequence

    Description
    NM_001105282.2: This RefSeq was permanently suppressed 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
Q6ZVS7.2 GenPept UniProtKB/Swiss-Prot:Q6ZVS7

Gene LinkOut

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

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