Q6ICB4 (SESQ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sesquipedalian-2
Short name=Ses2

Alternative name(s):
27 kDa inositol polyphosphate phosphatase interacting protein B
Short name=IPIP27B

Gene names

Name:

FAM109B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	259 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane. Ref.5
Subunit structure	Forms homodimers and heterodimers with FAM109A. Interacts with OCRL and INPP5B. Ref.4 Ref.5
Subcellular location	Early endosome. Recycling endosome. Golgi apparatus › trans-Golgi network. Cytoplasmic vesicle › clathrin-coated vesicle. Note: Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes. Ref.4 Ref.5
Domain	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.
Miscellaneous	Was named after 'sesquipedalian', an unnecessarily long description of a simple thing (Ref.4).
Sequence similarities	Belongs to the sesquipedalian family. Contains 1 PH domain.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Endosome Golgi apparatus
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	endosome organization Inferred from mutant phenotype Ref.5. Source: UniProtKB receptor recycling Inferred from mutant phenotype Ref.5. Source: UniProtKB retrograde transport, endosome to Golgi Inferred from mutant phenotype Ref.5. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell clathrin-coated vesicle Inferred from direct assay Ref.5. Source: UniProtKB early endosome Inferred from direct assay Ref.5. Source: UniProtKB recycling endosome Inferred from direct assay Ref.5. Source: UniProtKB trans-Golgi network Inferred from direct assay Ref.5. Source: UniProtKB
Molecular_function	phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 259	259	Sesquipedalian-2		PRO_0000254133
Regions
	Domain	17 – 121	105	PH
	Coiled coil	124 – 149	26	Potential
	Motif	223 – 235	13	F&H
Natural variations
	Natural variant	188	1	A → G. Ref.3 Corresponds to variant rs1807493 [ dbSNP | Ensembl ].		VAR_028822
Experimental info
	Mutagenesis	224	1	F → A: Loss of OCRL-binding. Ref.5
	Mutagenesis	228	1	H → A: Loss of OCRL-binding. Ref.5
	Mutagenesis	234 – 235	2	EI → AA: Loss of OCRL-binding.

Sequences

	Sequence		Length	Mass (Da)
	Q6ICB4 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: F82FDD0D2314BB0F	FASTA	259	28,338
	10 20 30 40 50 60 MKLNERSVAH YALSDSPADH MGFLRTWGGP GTPPTPSGTG RRCWFVLKGN LLFSFESREG 70 80 90 100 110 120 RAPLSLVVLE GCTVELAEAP VPEEFAFAIC FDAPGVRPHL LAAEGPAAQE AWVKVLSRAS 130 140 150 160 170 180 FGYMRLVVRE LESQLQDARQ SLALQRRSSW KSVASRCKPQ APNHRAAGLE NGHCLSKDSS 190 200 210 220 230 240 PVGLVEEAGS RSAGWGLAEW ELQGPASLLL GKGQSPVSPE TSCFSTLHDW YGQEIVELRQ 250 CWQKRAQGSH SKCEEQDRP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-188. Tissue: Colon.
[4]	"Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1." Swan L.E., Tomasini L., Pirruccello M., Lunardi J., De Camilli P. Proc. Natl. Acad. Sci. U.S.A. 107:3511-3516(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH OCRL, F&H MOTIF, SUBCELLULAR LOCATION.
[5]	"The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway." Noakes C.J., Lee G., Lowe M. Mol. Biol. Cell 22:606-623(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH OCRL AND INPP5B, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-224; HIS-228 AND 234-GLU-ILE-235.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00297381.
RefSeq	NP_001002034.2. NM_001002034.2.
UniGene	Hs.368312.
3D structure databases
ProteinModelPortal	Q6ICB4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000312753.
PTM databases
PhosphoSite	Q6ICB4.
Polymorphism databases
DMDM	74757717.
Proteomic databases
PaxDb	Q6ICB4.
PRIDE	Q6ICB4.
Protocols and materials databases
DNASU	150368.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321753; ENSP00000312753; ENSG00000177096.
GeneID	150368.
KEGG	hsa:150368.
UCSC	uc003bbz.3. human.
Organism-specific databases
CTD	150368.
GeneCards	GC22P042470.
HGNC	HGNC:27161. FAM109B.
HPA	HPA000647.
neXtProt	NX_Q6ICB4.
PharmGKB	PA143485467.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG117159.
HOVERGEN	HBG061708.
InParanoid	Q6ICB4.
OMA	LRTWGGP.
OrthoDB	EOG4V1723.
Gene expression databases
ArrayExpress	Q6ICB4.
Bgee	Q6ICB4.
CleanEx	HS_FAM109B.
Genevestigator	Q6ICB4.
GermOnline	ENSG00000177096. Homo sapiens.
Family and domain databases
Gene3D	2.30.29.30. 1 hit.
InterPro	IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. [Graphical view]
Pfam	PF00169. PH. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. [Graphical view]
PROSITE	PS50003. PH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	150368.
NextBio	86424.

Entry information

Entry name

SESQ2_HUMAN

Accession

Primary (citable) accession number: Q6ICB4
Secondary accession number(s): Q3SXQ3, Q8N6L9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 70 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.