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Q8N4B1 (SESQ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sesquipedalian-1

Short name=Ses1
Alternative name(s):
27 kDa inositol polyphosphate phosphatase-interacting protein A
Short name=IPIP27A
Gene names
Name:FAM109A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length249 AA.
Sequence statusComplete.
Protein existenceEvidence 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 FAM109B. Interacts with OCRL and INPP5B. Ref.4 Ref.5

Subcellular location

Early endosome. Recycling endosome. Golgi apparatustrans-Golgi network. Cytoplasmic vesicleclathrin-coated vesicle. Note: Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. 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 (Ref.6).

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.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N4B1-1)

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.
Isoform 2 (identifier: Q8N4B1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.
     124-138: EQQLAAVRGGGGMAL → MQKQRPREMNSLPGV
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8N4B1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     64-88: EGCTVELVEAAEEFAFAVRFAGTRA → VAVALWPRALSVSPWWLSQGSPDTP
     89-249: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8N4B1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAPGSPPGPAIATM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 249249Sesquipedalian-1
PRO_0000254572

Regions

Domain17 – 11397PH
Motif223 – 23513F&H
Compositional bias139 – 22385Pro-rich

Natural variations

Alternative sequence1 – 123123Missing in isoform 2.
VSP_021239
Alternative sequence11M → MAPGSPPGPAIATM in isoform 4.
VSP_044836
Alternative sequence64 – 8825EGCTV…AGTRA → VAVALWPRALSVSPWWLSQG SPDTP in isoform 3.
VSP_021241
Alternative sequence89 – 249161Missing in isoform 3.
VSP_021242
Alternative sequence124 – 13815EQQLA…GGMAL → MQKQRPREMNSLPGV in isoform 2.
VSP_021240

Experimental info

Mutagenesis2241F → A: Loss of OCRL-binding. Drastically reduces membrane targeting. Ref.4 Ref.5
Mutagenesis2281H → A: Loss of OCRL-binding. Ref.4 Ref.5
Mutagenesis234 – 2352EI → AA: Loss of OCRL-binding.

Secondary structure

.... 249
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 73410C946DA6113A

FASTA24927,215
        10         20         30         40         50         60 
MKLNERSLAF YATCDAPVDN AGFLYKKGGR HAAYHRRWFV LRGNMLFYFE DAASREPVGV 

        70         80         90        100        110        120 
IILEGCTVEL VEAAEEFAFA VRFAGTRART YVLAAESQDA MEGWVKALSR ASFDYLRLVV 

       130        140        150        160        170        180 
RELEQQLAAV RGGGGMALPQ PQPQSLPLPP SLPSALAPVP SLPSAPAPVP ALPLPRRPSA 

       190        200        210        220        230        240 
LPPKENGCAV WSTEATFRPG PEPPPPPPRR RASAPHGPLD MAPFARLHEC YGQEIRALRG 


QWLSSRVQP 

« Hide

Isoform 2 [UniParc].

Checksum: 8AAF24512D83EDF9
Show »

FASTA12613,610
Isoform 3 [UniParc].

Checksum: A855A284B01643EF
Show »

FASTA889,957
Isoform 4 [UniParc].

Checksum: 5886034B521FFCA4
Show »

FASTA26228,364

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Prostate.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-80 (ISOFORM 4).
Tissue: Brain.
[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 AND INPP5B, SUBCELLULAR LOCATION, F&H MOTIF, MUTAGENESIS OF PHE-224 AND HIS-228.
[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.
[6]"Recognition of the F&H motif by the Lowe syndrome protein OCRL."
Pirruccello M., Swan L.E., Folta-Stogniew E., De Camilli P.
Nat. Struct. Mol. Biol. 18:789-795(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 223-235 IN COMPLEX WITH OCRL, F&H MOTIF.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK056918 mRNA. Translation: BAB71310.1.
AC005805 Genomic DNA. No translation available.
BC014091 mRNA. Translation: AAH14091.1.
BC034809 mRNA. Translation: AAH34809.1.
CX758147 mRNA. No translation available.
CCDSCCDS53833.1. [Q8N4B1-4]
CCDS9152.1. [Q8N4B1-1]
RefSeqNP_001171467.1. NM_001177996.1. [Q8N4B1-4]
NP_001171468.1. NM_001177997.1. [Q8N4B1-1]
NP_653272.2. NM_144671.4. [Q8N4B1-1]
XP_006719320.1. XM_006719257.1. [Q8N4B1-1]
UniGeneHs.173088.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3QISX-ray2.30B223-235[»]
ProteinModelPortalQ8N4B1.
SMRQ8N4B1. Positions 19-112.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126873. 3 interactions.
IntActQ8N4B1. 1 interaction.
MINTMINT-6778621.
STRING9606.ENSP00000354461.

PTM databases

PhosphoSiteQ8N4B1.

Polymorphism databases

DMDM74728832.

Proteomic databases

MaxQBQ8N4B1.
PaxDbQ8N4B1.
PRIDEQ8N4B1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361483; ENSP00000354461; ENSG00000198324. [Q8N4B1-4]
ENST00000392658; ENSP00000376426; ENSG00000198324. [Q8N4B1-1]
ENST00000547838; ENSP00000447353; ENSG00000198324. [Q8N4B1-1]
ENST00000548163; ENSP00000449994; ENSG00000198324. [Q8N4B1-1]
GeneID144717.
KEGGhsa:144717.
UCSCuc001tsd.4. human. [Q8N4B1-1]

Organism-specific databases

CTD144717.
GeneCardsGC12M111798.
H-InvDBHIX0010998.
HGNCHGNC:26509. FAM109A.
neXtProtNX_Q8N4B1.
PharmGKBPA143485466.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG117159.
HOVERGENHBG061708.
OMATRARTYV.
OrthoDBEOG7966HQ.
PhylomeDBQ8N4B1.
TreeFamTF326731.

Gene expression databases

ArrayExpressQ8N4B1.
BgeeQ8N4B1.
CleanExHS_FAM109A.
GenevestigatorQ8N4B1.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
PfamPF00169. PH. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
[Graphical view]
PROSITEPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi144717.
NextBio35535063.
PROQ8N4B1.

Entry information

Entry nameSESQ1_HUMAN
AccessionPrimary (citable) accession number: Q8N4B1
Secondary accession number(s): J3KP50, Q6PJL9, Q96MH8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM