Format

Send to:

Choose Destination

FAM72C family with sequence similarity 72 member C [ Homo sapiens (human) ]

Gene ID: 554282, updated on 13-Mar-2020

Summary

Official Symbol
FAM72Cprovided by HGNC
Official Full Name
family with sequence similarity 72 member Cprovided by HGNC
Primary source
HGNC:HGNC:30602
See related
Ensembl:ENSG00000263513 MIM:616853
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 lymph node (RPKM 5.5), appendix (RPKM 2.9) and 19 other tissues See more

Genomic context

See FAM72C in Genome Data Viewer
Location:
1q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (143955364..143973519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 (PATCHES) NW_003871055.3 (770777..789436, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H2B histone pseudogene 2 Neighboring gene uncharacterized LOC105371209 Neighboring gene H3.2 histone (putative) Neighboring gene ribosomal protein L22 pseudogene 5 Neighboring gene SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) Neighboring gene immunoglobulin kappa variable 1/OR1-1 (pseudogene) Neighboring gene uncharacterized LOC105371207

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

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein FAM72C
Names
RP5-998N21.9

NCBI Reference Sequences (RefSeq)

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_001287385.1NP_001274314.1  protein FAM72C isoform 1

    See identical proteins and their annotated locations for NP_001274314.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC246680
    Consensus CDS
    CCDS72850.1
    UniProtKB/Swiss-Prot
    H0Y354
    Related
    ENSP00000463032.1, ENST00000584486.5
    Conserved Domains (1) summary
    pfam14976
    Location:6149
    FAM72; FAM72 protein
  2. NM_001346067.1NP_001332996.1  protein FAM72C isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is the same size but has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC246680
    Conserved Domains (1) summary
    pfam14976
    Location:49149
    FAM72; FAM72 protein
  3. NM_001346068.1NP_001332997.1  protein FAM72C isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC246680
    Conserved Domains (1) summary
    pfam14976
    Location:6118
    FAM72; FAM72 protein
  4. NM_001346070.1NP_001332999.1  protein FAM72C isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC246680
  5. NM_001346071.1NP_001333000.1  protein FAM72C isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC246680
    Consensus CDS
    CCDS86008.1
    UniProtKB/TrEMBL
    A0A087WSW5
    Related
    ENSP00000358174.4, ENST00000369175.4
    Conserved Domains (1) summary
    pfam14976
    Location:676
    FAM72; FAM72 protein

RNA

  1. NR_144349.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC246680

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    143955364..143973519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center