LLCFC1 LLLL and CFNLAS motif containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LLCFC1provided by HGNC
Official Full Name: LLLL and CFNLAS motif containing 1provided by HGNC
Primary source: HGNC:HGNC:21750
See related: Ensembl:ENSG00000165131 MIM:618946; AllianceGenome:HGNC:21750
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: SOF1; ctm-1; C7orf34
Summary: Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis (RPKM 14.8) See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142939484..142940868)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (144294899..144296279)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142636581..142637955)

Chromosome 7 - NC_000007.14 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?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2887 (e-PCR)
- UniSTS:28309

RH99241 (e-PCR)
- UniSTS:88285

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: sperm-egg fusion protein LLCFC1

Names: LLLL and CFNLAS motif-containing protein 1; MSSP-binding protein CTM-1; sperm-oocyte fusion required protein 1; uncharacterized protein C7orf34

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_001382496.1 → NP_001369425.1 sperm-egg fusion protein LLCFC1 precursor

Status: VALIDATED

Source sequence(s)

AC245136

Consensus CDS

CCDS5876.3

UniProtKB/Swiss-Prot

A0A0G2JPS5, A0A0S2Z637, A4D2H8, C9JTW1, Q8TDV6, Q96L11

Related

ENSP00000386450.4, ENST00000409607.5

Conserved Domains (1) summary

pfam15838
Location:31 → 102

DUF4717; Domain of unknown function (DUF4717)

RNA

NR_160290.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC245136

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

142939484..142940868

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

962551..963935

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

144294899..144296279

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178829.5: Suppressed sequence

Description

NM_178829.5: This RefSeq was removed because currently there is insufficient support for the start codon, and a downstream start codon is better supported.