SNTN sentan, cilia apical structure protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNTNprovided by HGNC
Official Full Name: sentan, cilia apical structure proteinprovided by HGNC
Primary source: HGNC:HGNC:33706
See related: Ensembl:ENSG00000188817 MIM:617832; AllianceGenome:HGNC:33706
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
Also known as: S100AL; sentan; S100A1L
Summary: Predicted to enable calcium ion binding activity and calcium-dependent protein binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward lung (RPKM 7.7) See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (63652675..63665212)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (63696298..63708831)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (63638351..63650888)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that sentan is the first molecular component of the ciliary tip to bridge the cell membrane and peripheral singlet microtubules, making the distal portion of the cilia narrow and stiff to allow for better airway clearance or ovum transport.
Title: Sentan: a novel specific component of the apical structure of vertebrate motile cilia.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D3S4105 (e-PCR)
- UniSTS:7785

D10S16 (e-PCR)
- UniSTS:155756

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sentan

Names: S100A-like protein

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)

NM_001080537.2 → NP_001074006.1 sentan isoform 2

See identical proteins and their annotated locations for NP_001074006.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC136289

Consensus CDS

CCDS33779.1

UniProtKB/Swiss-Prot

A6NMZ2, B7FF65

UniProtKB/TrEMBL

C9JRU3

Related

ENSP00000341442.3, ENST00000343837.8

Conserved Domains (1) summary

cd00213
Location:54 → 138

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
NM_001348756.2 → NP_001335685.1 sentan isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC136289

UniProtKB/TrEMBL

C9JRU3

Related

ENSP00000420078.1, ENST00000469440.5

Conserved Domains (1) summary

cd00213
Location:54 → 168

S-100; S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 proteins are ...