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Protein

Sesquipedalian-2

Gene

FAM109B

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

Functioni

Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • endosome organization Source: UniProtKB
  • receptor recycling Source: UniProtKB
  • retrograde transport, endosome to Golgi Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Sesquipedalian-2
Short name:
Ses2
Alternative name(s):
27 kDa inositol polyphosphate phosphatase interacting protein B
Short name:
IPIP27B
Gene namesi
Name:FAM109B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:27161. FAM109B.

Subcellular locationi

GO - Cellular componenti

  • clathrin-coated vesicle Source: UniProtKB
  • cytosol Source: GOC
  • early endosome Source: UniProtKB
  • recycling endosome Source: UniProtKB
  • trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi224F → A: Loss of OCRL-binding. 1 Publication1
Mutagenesisi228H → A: Loss of OCRL-binding. 1 Publication1
Mutagenesisi234 – 235EI → AA: Loss of OCRL-binding. 1 Publication2

Organism-specific databases

OpenTargetsiENSG00000177096.
PharmGKBiPA143485467.

Polymorphism and mutation databases

BioMutaiFAM109B.
DMDMi74757717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541331 – 259Sesquipedalian-2Add BLAST259

Proteomic databases

EPDiQ6ICB4.
MaxQBiQ6ICB4.
PaxDbiQ6ICB4.
PeptideAtlasiQ6ICB4.
PRIDEiQ6ICB4.

PTM databases

iPTMnetiQ6ICB4.
PhosphoSitePlusiQ6ICB4.

Expressioni

Gene expression databases

BgeeiENSG00000177096.
CleanExiHS_FAM109B.
ExpressionAtlasiQ6ICB4. baseline and differential.
GenevisibleiQ6ICB4. HS.

Organism-specific databases

HPAiHPA000647.

Interactioni

Subunit structurei

Forms homodimers and heterodimers with FAM109A. Interacts with OCRL and INPP5B.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
OCRLQ01968-24EBI-11081747,EBI-11749425

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi127287. 7 interactors.
IntActiQ6ICB4. 3 interactors.
STRINGi9606.ENSP00000312753.

Structurei

3D structure databases

ProteinModelPortaliQ6ICB4.
SMRiQ6ICB4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 121PHPROSITE-ProRule annotationAdd BLAST105

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili124 – 149Sequence analysisAdd BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi223 – 235F&HAdd BLAST13

Domaini

The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.

Sequence similaritiesi

Belongs to the sesquipedalian family.Curated
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IX8V. Eukaryota.
ENOG4111I0C. LUCA.
GeneTreeiENSGT00440000034671.
HOVERGENiHBG061708.
InParanoidiQ6ICB4.
OMAiLRTWGGP.
OrthoDBiEOG091G0IU5.
PhylomeDBiQ6ICB4.
TreeFamiTF326731.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6ICB4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLNERSVAH YALSDSPADH MGFLRTWGGP GTPPTPSGTG RRCWFVLKGN
60 70 80 90 100
LLFSFESREG RAPLSLVVLE GCTVELAEAP VPEEFAFAIC FDAPGVRPHL
110 120 130 140 150
LAAEGPAAQE AWVKVLSRAS FGYMRLVVRE LESQLQDARQ SLALQRRSSW
160 170 180 190 200
KSVASRCKPQ APNHRAAGLE NGHCLSKDSS PVGLVEEAGS RSAGWGLAEW
210 220 230 240 250
ELQGPASLLL GKGQSPVSPE TSCFSTLHDW YGQEIVELRQ CWQKRAQGSH

SKCEEQDRP
Length:259
Mass (Da):28,338
Last modified:July 5, 2004 - v1
Checksum:iF82FDD0D2314BB0F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028822188A → G.1 PublicationCorresponds to variant rs1807493dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456454 mRNA. Translation: CAG30340.1.
Z99716, Z82192 Genomic DNA. Translation: CAI41696.1.
Z82192, Z99716 Genomic DNA. Translation: CAI19712.1.
BC029776 mRNA. Translation: AAH29776.1.
BC104175 mRNA. Translation: AAI04176.1.
BC104176 mRNA. Translation: AAI04177.1.
CCDSiCCDS33655.1.
RefSeqiNP_001002034.2. NM_001002034.2.
XP_005261430.1. XM_005261373.3.
UniGeneiHs.368312.

Genome annotation databases

EnsembliENST00000321753; ENSP00000312753; ENSG00000177096.
GeneIDi150368.
KEGGihsa:150368.
UCSCiuc003bbz.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456454 mRNA. Translation: CAG30340.1.
Z99716, Z82192 Genomic DNA. Translation: CAI41696.1.
Z82192, Z99716 Genomic DNA. Translation: CAI19712.1.
BC029776 mRNA. Translation: AAH29776.1.
BC104175 mRNA. Translation: AAI04176.1.
BC104176 mRNA. Translation: AAI04177.1.
CCDSiCCDS33655.1.
RefSeqiNP_001002034.2. NM_001002034.2.
XP_005261430.1. XM_005261373.3.
UniGeneiHs.368312.

3D structure databases

ProteinModelPortaliQ6ICB4.
SMRiQ6ICB4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127287. 7 interactors.
IntActiQ6ICB4. 3 interactors.
STRINGi9606.ENSP00000312753.

PTM databases

iPTMnetiQ6ICB4.
PhosphoSitePlusiQ6ICB4.

Polymorphism and mutation databases

BioMutaiFAM109B.
DMDMi74757717.

Proteomic databases

EPDiQ6ICB4.
MaxQBiQ6ICB4.
PaxDbiQ6ICB4.
PeptideAtlasiQ6ICB4.
PRIDEiQ6ICB4.

Protocols and materials databases

DNASUi150368.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321753; ENSP00000312753; ENSG00000177096.
GeneIDi150368.
KEGGihsa:150368.
UCSCiuc003bbz.4. human.

Organism-specific databases

CTDi150368.
GeneCardsiFAM109B.
HGNCiHGNC:27161. FAM109B.
HPAiHPA000647.
neXtProtiNX_Q6ICB4.
OpenTargetsiENSG00000177096.
PharmGKBiPA143485467.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX8V. Eukaryota.
ENOG4111I0C. LUCA.
GeneTreeiENSGT00440000034671.
HOVERGENiHBG061708.
InParanoidiQ6ICB4.
OMAiLRTWGGP.
OrthoDBiEOG091G0IU5.
PhylomeDBiQ6ICB4.
TreeFamiTF326731.

Miscellaneous databases

GenomeRNAii150368.
PROiQ6ICB4.

Gene expression databases

BgeeiENSG00000177096.
CleanExiHS_FAM109B.
ExpressionAtlasiQ6ICB4. baseline and differential.
GenevisibleiQ6ICB4. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSESQ2_HUMAN
AccessioniPrimary (citable) accession number: Q6ICB4
Secondary accession number(s): Q3SXQ3, Q8N6L9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 100 of the entry and version 1 of the sequence. [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

Miscellaneous

Was named after 'sesquipedalian', an unnecessarily long description of a simple thing.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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. SIMILARITY comments
    Index of protein domains and families

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.