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FAM71E1 family with sequence similarity 71 member E1 [ Homo sapiens (human) ]

Gene ID: 112703, updated on 21-Dec-2019

Summary

Official Symbol
FAM71E1provided by HGNC
Official Full Name
family with sequence similarity 71 member E1provided by HGNC
Primary source
HGNC:HGNC:25107
See related
Ensembl:ENSG00000142530
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
Biased expression in testis (RPKM 25.7), kidney (RPKM 5.6) and 5 other tissues See more
Orthologs

Genomic context

See FAM71E1 in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50466643..50476848, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50970045..50980085, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Spi-B transcription factor Neighboring gene myosin binding protein C2 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene Josephin domain containing 2 Neighboring gene aspartate dehydrogenase domain containing

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

  • FLJ27522, FLJ43757

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_001308429.2NP_001295358.1  protein FAM71E1 isoform 1

    See identical proteins and their annotated locations for NP_001295358.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC020909, AK131032, BC071737
    Consensus CDS
    CCDS77337.1
    UniProtKB/Swiss-Prot
    Q6IPT2
    Related
    ENSP00000472421.2, ENST00000600100.6
    Conserved Domains (1) summary
    pfam12480
    Location:175235
    DUF3699; Protein of unknown function (DUF3699)
  2. NM_138411.3NP_612420.1  protein FAM71E1 isoform 2

    See identical proteins and their annotated locations for NP_612420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC020909, BC071737
    Consensus CDS
    CCDS33081.1
    UniProtKB/Swiss-Prot
    Q6IPT2
    Related
    ENSP00000471272.2, ENST00000595790.5
    Conserved Domains (1) summary
    pfam12480
    Location:160219
    DUF3699; Protein of unknown function (DUF3699)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50466643..50476848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526405.2XP_011524707.2  protein FAM71E1 isoform X1

  2. XM_011526406.3XP_011524708.3  protein FAM71E1 isoform X2

    Conserved Domains (1) summary
    pfam12480
    Location:97156
    DUF3699; Protein of unknown function (DUF3699)
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