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SAMD14 sterile alpha motif domain containing 14 [ Homo sapiens (human) ]

Gene ID: 201191, updated on 5-Aug-2022

Summary

Official Symbol
SAMD14provided by HGNC
Official Full Name
sterile alpha motif domain containing 14provided by HGNC
Primary source
HGNC:HGNC:27312
See related
Ensembl:ENSG00000167100 MIM:619233; AllianceGenome:HGNC:27312
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
Summary
Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization; calcium-mediated signaling; and neuron projection development. Predicted to be active in several cellular components, including actin cytoskeleton; dendrite; and postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 5.2), adrenal (RPKM 5.0) and 24 other tissues See more
Orthologs
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Genomic context

See SAMD14 in Genome Data Viewer
Location:
17q21.33
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50110040..50130160, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50977142..50997267, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48187404..48207524, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904024 Neighboring gene uncharacterized LOC124904026 Neighboring gene pyruvate dehydrogenase kinase 2 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene uncharacterized LOC124904025 Neighboring gene Sharpr-MPRA regulatory region 5931

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • FLJ30281, FLJ36890

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sterile alpha motif domain-containing protein 14
Names
SAM domain-containing protein 14

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_001257359.2NP_001244288.1  sterile alpha motif domain-containing protein 14 isoform 2

    See identical proteins and their annotated locations for NP_001244288.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC002401, AF035306, AK094209, BM973393, CN369613
    Consensus CDS
    CCDS58562.1
    UniProtKB/Swiss-Prot
    Q8IZD0, Q8N2X0
    Related
    ENSP00000329144.4, ENST00000330175.9
    Conserved Domains (2) summary
    cd09512
    Location:321386
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:323386
    SAM; Sterile alpha motif
  2. NM_174920.4NP_777580.1  sterile alpha motif domain-containing protein 14 isoform 1

    See identical proteins and their annotated locations for NP_777580.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC002401, AF035306, AY148482, BM973393, CN369613
    Consensus CDS
    CCDS11560.1
    UniProtKB/Swiss-Prot
    Q8IZD0
    Related
    ENSP00000424474.1, ENST00000503131.1
    Conserved Domains (2) summary
    cd09512
    Location:349414
    SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
    smart00454
    Location:351414
    SAM; Sterile alpha motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    50110040..50130160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024322.3XP_016879811.1  sterile alpha motif domain-containing protein 14 isoform X1

    Related
    ENSP00000285206.8, ENST00000285206.12

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    50977142..50997267 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)