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Protein

Protein FAM92A

Gene

FAM92A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in ciliogenesis (PubMed:27528616). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616).1 Publication

GO - Biological processi

  • cilium assembly Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM92A
Gene namesi
Name:FAM92AImported
Synonyms:FAM92A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30452. FAM92A.

Subcellular locationi

Isoform 3 :
  • Nucleus 1 Publication

GO - Cellular componenti

  • centriole Source: UniProtKB
  • ciliary basal body Source: Ensembl
  • ciliary base Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi107K → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-110; E-114; E-132; E-134 and E-136. 1 Publication1
Mutagenesisi110R → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107;E-114; E-132; E-134 and E-136. 1 Publication1
Mutagenesisi114K → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-132; E-134 and E-136. 1 Publication1
Mutagenesisi132R → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-134 and E-136. 1 Publication1
Mutagenesisi134R → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-136. 1 Publication1
Mutagenesisi136R → E: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-134. 1 Publication1

Organism-specific databases

DisGeNETi137392.
OpenTargetsiENSG00000188343.
PharmGKBiPA142671823.

Polymorphism and mutation databases

BioMutaiFAM92A1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002870801 – 289Protein FAM92AAdd BLAST289

Proteomic databases

EPDiA1XBS5.
MaxQBiA1XBS5.
PaxDbiA1XBS5.
PRIDEiA1XBS5.

PTM databases

iPTMnetiA1XBS5.
PhosphoSitePlusiA1XBS5.

Expressioni

Gene expression databases

BgeeiENSG00000188343.
CleanExiHS_FAM92A1.
ExpressionAtlasiA1XBS5. baseline and differential.
GenevisibleiA1XBS5. HS.

Organism-specific databases

HPAiHPA034760.

Interactioni

Subunit structurei

Homodimer (via BAR-like domain) (PubMed:27528616). Heterodimer with FAM92B (via BAR-like domains) (PubMed:27528616). Interacts (via BAR-like domain) with CBY1; this interaction is required for targeting FAM92A to centriole (PubMed:27528616).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CBY1Q9Y3M23EBI-2349888,EBI-947308

Protein-protein interaction databases

BioGridi126476. 4 interactors.
IntActiA1XBS5. 3 interactors.

Structurei

3D structure databases

ProteinModelPortaliA1XBS5.
SMRiA1XBS5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni10 – 220BAR-like1 PublicationAdd BLAST211

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili107 – 178Sequence analysisAdd BLAST72

Domaini

The BAR-like domain displays limited similarity to other BAR domains.1 Publication

Sequence similaritiesi

Belongs to the FAM92 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IHVX. Eukaryota.
ENOG410Z4I5. LUCA.
GeneTreeiENSGT00390000010285.
HOGENOMiHOG000060253.
HOVERGENiHBG107895.
InParanoidiA1XBS5.
OMAiFILISMK.
OrthoDBiEOG091G0T7H.
PhylomeDBiA1XBS5.
TreeFamiTF324316.

Family and domain databases

InterProiView protein in InterPro
IPR027267. AH/BAR-dom.
IPR009602. FAM92.
PANTHERiPTHR21223. PTHR21223. 1 hit.
PfamiView protein in Pfam
PF06730. FAM92. 1 hit.
SUPFAMiSSF103657. SSF103657. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A1XBS5-1) [UniParc]FASTAAdd to basket
Also known as: FAM92A1-2891 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MMRRTLENRN AQTKQLQTAV SNVEKHFGEL CQIFAAYVRK TARLRDKADL
60 70 80 90 100
LVNEINAYAA TETPHLKLGL MNFADEFAKL QDYRQAEVER LEAKVVEPLK
110 120 130 140 150
TYGTIVKMKR DDLKATLTAR NREAKQLTQL ERTRQRNPSD RHVISQAETE
160 170 180 190 200
LQRAAMDASR TSRHLEETIN NFERQKMKDI KTIFSEFITI EMLFHGKALE
210 220 230 240 250
VYTAAYQNIQ NIDEDEDLEV FRNSLYAPDY SSRLDIVRAN SKSPLQRSLS
260 270 280
AKCVSGTGQV STCRLRKDQQ AEDDEDDELD VTEEENFLK
Length:289
Mass (Da):33,431
Last modified:September 23, 2008 - v2
Checksum:iCC95F1A4217FDCA5
GO
Isoform 2 (identifier: A1XBS5-2) [UniParc]FASTAAdd to basket
Also known as: FAM92A1-2511 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     182-219: Missing.

Show »
Length:251
Mass (Da):28,997
Checksum:iE87B09A3CDE53979
GO
Isoform 3 (identifier: A1XBS5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     260-289: VSTCRLRKDQQAEDDEDDELDVTEEENFLK → EAGWAATCQTLI

Show »
Length:271
Mass (Da):31,123
Checksum:iA80C340EF3439A3C
GO
Isoform 4 (identifier: A1XBS5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     220-289: VFRNSLYAPD...DVTEEENFLK → RWSFAMLPRL...LCMHQIIHLV

Note: No experimental confirmation available.
Show »
Length:262
Mass (Da):30,400
Checksum:i006FEAE8F6F755AC
GO
Isoform 5 (identifier: A1XBS5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: ERLEAKVVE → WSEITVSLL
     98-289: Missing.

Note: No experimental confirmation available.
Show »
Length:97
Mass (Da):11,188
Checksum:i80F952E0764B5083
GO

Sequence cautioni

The sequence AAH14598 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI08708 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti137N → S in ABC55436 (PubMed:17646714).Curated1
Sequence conflicti150E → G in BAC04753 (PubMed:14702039).Curated1
Sequence conflicti281V → I in ABC55437 (PubMed:17646714).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062190222R → Q. Corresponds to variant dbSNP:rs36117362Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02529289 – 97ERLEAKVVE → WSEITVSLL in isoform 5. 1 Publication9
Alternative sequenceiVSP_02529398 – 289Missing in isoform 5. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_025294182 – 219Missing in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_025295220 – 289VFRNS…ENFLK → RWSFAMLPRLVLNSWGSSDP PALASQSVRFSEILCMHQII HLV in isoform 4. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_025296260 – 289VSTCR…ENFLK → EAGWAATCQTLI in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ327715 mRNA. Translation: ABC55436.1.
DQ327716 mRNA. Translation: ABC55437.1.
AK096298 mRNA. Translation: BAC04753.1.
CR627475 mRNA. Translation: CAH10675.1.
AC010834 Genomic DNA. No translation available.
AC120053 Genomic DNA. No translation available.
BC014598 mRNA. Translation: AAH14598.2. Different initiation.
BC108707 mRNA. Translation: AAI08708.1. Different initiation.
CCDSiCCDS47892.1. [A1XBS5-1]
CCDS64933.1. [A1XBS5-2]
RefSeqiNP_001269963.1. NM_001283034.1. [A1XBS5-2]
NP_660312.2. NM_145269.4. [A1XBS5-1]
UniGeneiHs.125038.

Genome annotation databases

EnsembliENST00000423990; ENSP00000401774; ENSG00000188343. [A1XBS5-2]
ENST00000452913; ENSP00000391671; ENSG00000188343. [A1XBS5-3]
ENST00000518116; ENSP00000428065; ENSG00000188343. [A1XBS5-4]
ENST00000518322; ENSP00000429367; ENSG00000188343. [A1XBS5-1]
GeneIDi137392.
KEGGihsa:137392.
UCSCiuc064onr.1. human. [A1XBS5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiFA92A_HUMAN
AccessioniPrimary (citable) accession number: A1XBS5
Secondary accession number(s): A1XBS4
, Q32ND3, Q6AHW7, Q8N8R1, Q96L09
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: September 23, 2008
Last modified: July 5, 2017
This is version 85 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families