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

Gene ID: 130540, updated on 13-Oct-2022

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 MIM:619796; AllianceGenome:HGNC:14439
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
Summary
Predicted to be located in cytoplasmic vesicle and sperm flagellum. Predicted to be active in cytoplasm; outer dense fiber; and sperm fibrous sheath. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 8.4), lung (RPKM 1.1) and 3 other tissues See more
Orthologs
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Genomic context

See FLACC1 in Genome Data Viewer
Location:
2q33.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201288271..201364289, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201768929..201838036, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202152994..202222068, 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 SCYL2 pseudogene 1 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in outer dense fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
flagellum-associated coiled-coil domain-containing protein 1
Names
ALS2 chromosome region 12
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12
amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein
amyotrophic lateral sclerosis 2 chromosome region 12
amyotrophic lateral sclerosis 2 chromosome region candidate 12

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_001127391.3NP_001120863.1  flagellum-associated coiled-coil domain-containing protein 1 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, ENST00000392257.8
    Conserved Domains (1) summary
    TIGR02168
    Location:113393
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. NM_001289993.2NP_001276922.1  flagellum-associated coiled-coil domain-containing protein 1 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_139163.4NP_631902.2  flagellum-associated coiled-coil domain-containing protein 1 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
    Q8N1B6, Q96Q35
    Related
    ENSP00000385098.2, ENST00000405148.6
    Conserved Domains (1) summary
    TIGR02169
    Location:117399
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

RNA

  1. NR_110620.2 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 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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    201288271..201364289 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452696.2XP_024308464.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N1B6
    Conserved Domains (1) summary
    TIGR02169
    Location:117399
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  2. XM_047443393.1XP_047299349.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X3

  3. XM_011510606.4XP_011508908.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    TIGR02168
    Location:127361
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  4. XM_047443395.1XP_047299351.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X4

  5. XM_047443394.1XP_047299350.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X4

  6. XM_011510610.4XP_011508912.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X5

  7. XM_011510612.4XP_011508914.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X7

  8. XM_047443396.1XP_047299352.1  flagellum-associated coiled-coil domain-containing protein 1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    201768929..201838036 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)