UniProtKB - Q96Q35 (FACC1_HUMAN)
Protein
Flagellum-associated coiled-coil domain-containing protein 1
Gene
FLACC1
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Flagellum-associated coiled-coil domain-containing protein 1CuratedAlternative name(s): Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14439, FLACC1 |
neXtProti | NX_Q96Q35 |
VEuPathDBi | HostDB:ENSG00000155749.12 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- Cytoplasmic granule By similarity
- flagellum By similarity
Note: Expressed in the principal piece of the sperm tail, nearest the sperm head.By similarity
Cytoskeleton
- outer dense fiber Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- sperm fibrous sheath Source: UniProtKB
- sperm flagellum Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, FlagellumPathology & Biotechi
Organism-specific databases
DisGeNETi | 130540 |
OpenTargetsi | ENSG00000155749 |
PharmGKBi | PA24735 |
Miscellaneous databases
Pharosi | Q96Q35, Tdark |
Genetic variation databases
BioMutai | ALS2CR12 |
DMDMi | 212278361 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064540 | 1 – 445 | Flagellum-associated coiled-coil domain-containing protein 1Add BLAST | 445 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 376 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
jPOSTi | Q96Q35 |
MassIVEi | Q96Q35 |
PaxDbi | Q96Q35 |
PeptideAtlasi | Q96Q35 |
PRIDEi | Q96Q35 |
ProteomicsDBi | 34028 77818 [Q96Q35-1] |
PTM databases
iPTMneti | Q96Q35 |
PhosphoSitePlusi | Q96Q35 |
Expressioni
Gene expression databases
Bgeei | ENSG00000155749, Expressed in testis and 129 other tissues |
ExpressionAtlasi | Q96Q35, baseline and differential |
Genevisiblei | Q96Q35, HS |
Organism-specific databases
HPAi | ENSG00000155749, Tissue enhanced (brain, epididymis, testis) |
Interactioni
Binary interactionsi
Hide detailsQ96Q35
With | #Exp. | IntAct |
---|---|---|
STK16 [O75716] | 3 | EBI-750451,EBI-749295 |
SULT2B1 [O00204] | 8 | EBI-750451,EBI-749441 |
TCL1A [P56279] | 3 | EBI-750451,EBI-749995 |
TXNDC5 [Q86UY0] | 3 | EBI-750451,EBI-2825190 |
Isoform 2 [Q96Q35-2]
Protein-protein interaction databases
BioGRIDi | 126239, 26 interactors |
IntActi | Q96Q35, 25 interactors |
STRINGi | 9606.ENSP00000385098 |
Miscellaneous databases
RNActi | Q96Q35, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 122 – 226 | Sequence analysisAdd BLAST | 105 | |
Coiled coili | 283 – 315 | Sequence analysisAdd BLAST | 33 | |
Coiled coili | 387 – 414 | Sequence analysisAdd BLAST | 28 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502R2KT, Eukaryota |
GeneTreei | ENSGT00400000022323 |
HOGENOMi | CLU_049696_0_0_1 |
InParanoidi | Q96Q35 |
OMAi | LIKTPRP |
OrthoDBi | 1374230at2759 |
PhylomeDBi | Q96Q35 |
TreeFami | TF338239 |
Family and domain databases
InterProi | View protein in InterPro IPR026674, FLACC1 |
PANTHERi | PTHR21707, PTHR21707, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96Q35-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MYPNPLIYCT CWDPWNLGPR KLIKTPQLPR KNSTGSSKLT PLVPAPKNHN
60 70 80 90 100
YLQPTKPVVS PKMKIHSARQ EETNKSFYEV INVSPGYQLV RNREQISVTL
110 120 130 140 150
GDEMFDRKKR WESEIPDKGR FSRTNIISDL EEQISELTAI IEQMNRDHQS
160 170 180 190 200
AQKLLSSEMD LRCAEMKQNF ENKNRELKEA HEAELSELEN NYKAALKAEK
210 220 230 240 250
LAAQEKLEEM GKEYKYLKNM FRTYQDSIYD EMEEKWSKQK AKWKKDEKFE
260 270 280 290 300
RENILLQQKK KMTKKFEMES GEEDKKINES CSAVFENFIQ EKEELLKQHQ
310 320 330 340 350
SDTLQLEELR KTKEVPWRRD QINRHWHDVL QQLLLMQVMQ EELHAQALIL
360 370 380 390 400
ESLNTNLYYT QLELQKEKAI VGNLEKMLQT KFAETEEKYK HTIQILTEEN
410 420 430 440
IHLKQKIISK NEEICEGCSG RLASITVSKD DSDTVQDGSK KGQES
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JZS0 | C9JZS0_HUMAN | Amyotrophic lateral sclerosis 2 (Ju... | FLACC1 ALS2CR12, hCG_16990 | 143 | Annotation score: | ||
C9JTY0 | C9JTY0_HUMAN | Flagellum-associated coiled-coil do... | FLACC1 | 49 | Annotation score: | ||
H7C1T5 | H7C1T5_HUMAN | Flagellum-associated coiled-coil do... | FLACC1 | 124 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045625 | 43 | V → L2 PublicationsCorresponds to variant dbSNP:rs13014235Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046184 | 315 – 337 | Missing in isoform 2. 1 PublicationAdd BLAST | 23 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB053314 mRNA Translation: BAB69022.1 AC007256 Genomic DNA Translation: AAY24226.1 CH471063 Genomic DNA Translation: EAW70267.1 CH471063 Genomic DNA Translation: EAW70269.1 BC031603 mRNA Translation: AAH31603.1 |
CCDSi | CCDS2346.1 [Q96Q35-1] CCDS46488.1 [Q96Q35-2] |
RefSeqi | NP_001120863.1, NM_001127391.2 [Q96Q35-2] NP_001276922.1, NM_001289993.1 [Q96Q35-2] NP_631902.2, NM_139163.3 [Q96Q35-1] |
Genome annotation databases
Ensembli | ENST00000286190; ENSP00000286190; ENSG00000155749 [Q96Q35-1] ENST00000392257; ENSP00000376086; ENSG00000155749 [Q96Q35-2] ENST00000405148; ENSP00000385098; ENSG00000155749 [Q96Q35-1] ENST00000439709; ENSP00000412073; ENSG00000155749 [Q96Q35-2] |
GeneIDi | 130540 |
KEGGi | hsa:130540 |
UCSCi | uc002uya.5, human [Q96Q35-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB053314 mRNA Translation: BAB69022.1 AC007256 Genomic DNA Translation: AAY24226.1 CH471063 Genomic DNA Translation: EAW70267.1 CH471063 Genomic DNA Translation: EAW70269.1 BC031603 mRNA Translation: AAH31603.1 |
CCDSi | CCDS2346.1 [Q96Q35-1] CCDS46488.1 [Q96Q35-2] |
RefSeqi | NP_001120863.1, NM_001127391.2 [Q96Q35-2] NP_001276922.1, NM_001289993.1 [Q96Q35-2] NP_631902.2, NM_139163.3 [Q96Q35-1] |
3D structure databases
SMRi | Q96Q35 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126239, 26 interactors |
IntActi | Q96Q35, 25 interactors |
STRINGi | 9606.ENSP00000385098 |
PTM databases
iPTMneti | Q96Q35 |
PhosphoSitePlusi | Q96Q35 |
Genetic variation databases
BioMutai | ALS2CR12 |
DMDMi | 212278361 |
Proteomic databases
jPOSTi | Q96Q35 |
MassIVEi | Q96Q35 |
PaxDbi | Q96Q35 |
PeptideAtlasi | Q96Q35 |
PRIDEi | Q96Q35 |
ProteomicsDBi | 34028 77818 [Q96Q35-1] |
Protocols and materials databases
Antibodypediai | 34140, 82 antibodies |
DNASUi | 130540 |
Genome annotation databases
Ensembli | ENST00000286190; ENSP00000286190; ENSG00000155749 [Q96Q35-1] ENST00000392257; ENSP00000376086; ENSG00000155749 [Q96Q35-2] ENST00000405148; ENSP00000385098; ENSG00000155749 [Q96Q35-1] ENST00000439709; ENSP00000412073; ENSG00000155749 [Q96Q35-2] |
GeneIDi | 130540 |
KEGGi | hsa:130540 |
UCSCi | uc002uya.5, human [Q96Q35-1] |
Organism-specific databases
CTDi | 130540 |
DisGeNETi | 130540 |
GeneCardsi | FLACC1 |
HGNCi | HGNC:14439, FLACC1 |
HPAi | ENSG00000155749, Tissue enhanced (brain, epididymis, testis) |
neXtProti | NX_Q96Q35 |
OpenTargetsi | ENSG00000155749 |
PharmGKBi | PA24735 |
VEuPathDBi | HostDB:ENSG00000155749.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R2KT, Eukaryota |
GeneTreei | ENSGT00400000022323 |
HOGENOMi | CLU_049696_0_0_1 |
InParanoidi | Q96Q35 |
OMAi | LIKTPRP |
OrthoDBi | 1374230at2759 |
PhylomeDBi | Q96Q35 |
TreeFami | TF338239 |
Enzyme and pathway databases
PathwayCommonsi | Q96Q35 |
Miscellaneous databases
BioGRID-ORCSi | 130540, 7 hits in 983 CRISPR screens |
GenomeRNAii | 130540 |
Pharosi | Q96Q35, Tdark |
PROi | PR:Q96Q35 |
RNActi | Q96Q35, protein |
Gene expression databases
Bgeei | ENSG00000155749, Expressed in testis and 129 other tissues |
ExpressionAtlasi | Q96Q35, baseline and differential |
Genevisiblei | Q96Q35, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026674, FLACC1 |
PANTHERi | PTHR21707, PTHR21707, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FACC1_HUMAN | |
Accessioni | Q96Q35Primary (citable) accession number: Q96Q35 Secondary accession number(s): G5E9S3, Q53TT6, Q8N1B6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 19, 2002 |
Last sequence update: | July 22, 2008 | |
Last modified: | April 7, 2021 | |
This is version 146 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports