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FLACC1 flagellum associated containing coiled-coil domains 1 [ Homo sapiens (human) ]

Gene ID: 130540, updated on 17-Jun-2019

Summary

Official Symbol
FLACC1provided by HGNC
Official Full Name
flagellum associated containing coiled-coil domains 1provided by HGNC
Primary source
HGNC:HGNC:14439
See related
Ensembl:ENSG00000155749
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
ALS2CR12
Expression
Biased expression in testis (RPKM 8.4), lung (RPKM 1.1) and 3 other tissues See more
Orthologs

Genomic context

See FLACC1 in Genome Data Viewer
Location:
2q33.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201288271..201364285, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202153147..202222101, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene caspase 10 Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene caspase 8 Neighboring gene trafficking kinesin protein 2 Neighboring gene SCY1 like pseudokinase 2 pseudogene Neighboring gene STE20 related adaptor beta

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
NHGRI GWA Catalog
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
outer dense fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm fibrous sheath ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein
Names
ALS2 chromosome region 12
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12
amyotrophic lateral sclerosis 2 chromosome region 12
amyotrophic lateral sclerosis 2 chromosome region candidate 12

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_001127391.3NP_001120863.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform b

    See identical proteins and their annotated locations for NP_001120863.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 encode the same protein (isoform b).
    Source sequence(s)
    AB053314, BC031603, BX095441, DB034999
    Consensus CDS
    CCDS46488.1
    UniProtKB/Swiss-Prot
    Q96Q35
    Related
    ENSP00000376086.3, ENST00000392257.7
    Conserved Domains (1) summary
    TIGR02168
    Location:113393
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. NM_001289993.2NP_001276922.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform b

    See identical proteins and their annotated locations for NP_001276922.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 encode the same protein (isoform b).
    Source sequence(s)
    AB053314, AC007256, AK292283
    Consensus CDS
    CCDS46488.1
    UniProtKB/Swiss-Prot
    Q96Q35
    UniProtKB/TrEMBL
    A8K8B8
    Related
    ENSP00000412073.1, ENST00000439709.5
    Conserved Domains (1) summary
    TIGR02168
    Location:113393
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  3. NM_139163.3NP_631902.2  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform a

    See identical proteins and their annotated locations for NP_631902.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AB053314, AC007256, CD703925, DB054409
    Consensus CDS
    CCDS2346.1
    UniProtKB/Swiss-Prot
    Q96Q35
    Related
    ENSP00000385098.2, ENST00000405148.6
    Conserved Domains (1) summary
    cl25732
    Location:117399
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_110620.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB053314, AC007256, AK124115, CD703925, DB054409
    Related
    ENST00000494171.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    201288271..201364285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452696.1XP_024308464.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:117399
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011510606.3XP_011508908.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X2

    Conserved Domains (1) summary
    TIGR02168
    Location:127361
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  3. XM_017003362.2XP_016858851.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X6

    Conserved Domains (1) summary
    PRK12704
    Location:22202
    PRK12704; phosphodiesterase; Provisional
  4. XM_011510610.3XP_011508912.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X4

  5. XM_011510612.3XP_011508914.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X6

  6. XM_024452697.1XP_024308465.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:117364
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_017003361.2XP_016858850.1  amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein isoform X5

    Conserved Domains (1) summary
    TIGR02169
    Location:117311
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
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