SEC1P secretory blood group 1, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEC1Pprovided by HGNC
Official Full Name: secretory blood group 1, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:44149
See related: Ensembl:ENSG00000293426 AllianceGenome:HGNC:44149
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: SEC1
Summary: Predicted to enable galactoside 2-alpha-L-fucosyltransferase activity. Predicted to be involved in oligosaccharide biosynthetic process. Predicted to act upstream of or within protein glycosylation. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 2.7), brain (RPKM 1.0) and 20 other tissues See more
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Genomic context

Location:: 19q13.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48638039..48682245)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51632520..51676650)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49141296..49185502)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a hybrid allele of Sec1-FUT2-Sec1 was found; DNA sequence suggested the Sec1-FUT2-Sec1 allele contains a 275-bp sequence identical to the FUT2 sequence including a 54-bp FUT2-specific region & that might have been generated by interlocus gene conversion
Title: Sec1-FUT2-Sec1 hybrid allele generated by interlocus gene conversion.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

alpha(1,2) fucosyltransferase pseudogene

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.