A5PKW4 (PSD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
PH and SEC7 domain-containing protein 1

Alternative name(s):
Exchange factor for ARF6
Pleckstrin homology and SEC7 domain-containing protein 1

Gene names

Name:	PSD
Synonyms:	EFA6, KIAA2011, PSD1, TYL

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	1024 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Guanine nucleotide exchange factor for ARF6. Induces cytoskeletal remodeling By similarity.
Subunit structure	Interacts with ACTN1 By similarity.
Subcellular location	Cell membrane By similarity. Cell projection › ruffle By similarity.
Tissue specificity	Isoform 2 is expressed in the brain. Ref.1
Sequence similarities	Belongs to the PSD family. Contains 1 PH domain. Contains 1 SEC7 domain.
Sequence caution	The sequence BAC23107.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Membrane
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuron differentiation Inferred from Biological aspect of Ancestor. Source: RefGenome regulation of ARF protein signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	cell junction Inferred from Biological aspect of Ancestor. Source: RefGenome integral to membrane Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell ruffle Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ARF guanyl-nucleotide exchange factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome phospholipid binding Inferred from electronic annotation. Source: InterPro signal transducer activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms may exist.

Isoform 1 (identifier: A5PKW4-1)

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: A5PKW4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-379: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1024	1024	PH and SEC7 domain-containing protein 1		PRO_0000318298
Regions
	Domain	512 – 706	195	SEC7
	Domain	756 – 869	114	PH
	Coiled coil	898 – 924	27	Potential
	Compositional bias	18 – 181	164	Pro-rich
	Compositional bias	432 – 466	35	Pro-rich
	Compositional bias	483 – 488	6	Poly-Glu
Amino acid modifications
	Modified residue	720	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 379	379	Missing in isoform 2.		VSP_031186
Experimental info
	Sequence conflict	109	1	A → T in CAA68002. Ref.1
	Sequence conflict	109	1	A → T in AAI42690. Ref.5
	Sequence conflict	462	1	A → T in CAA68002. Ref.1
	Sequence conflict	537	1	E → D in CAA68002. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 23, 2008. Version 2. Checksum: 74583FEAAB0E4E01	FASTA	1,024	109,543
	10 20 30 40 50 60 MAQGAMRFCS EGDCAISPPR CPRRWLPEGP VPQSPPASMY GSTGSLLRRV AGPGPRGREL 70 80 90 100 110 120 GRVTAPCTPL RGPPSPRVAP SPWAPSSPTG QPPPGAQSSV VIFRFVEKAS VRPLNGLPAP 130 140 150 160 170 180 GGLSRSWDLG GVSPPRPTPA LGPGSNRKLR LEASTSDPLP ARGGSALPGS RNLVHGPPAP 190 200 210 220 230 240 PQVGADGLYS SLPNGLGGPP ERLATLFGGP ADTGFLNQGD TWSSPREVSS HAQRIARAKW 250 260 270 280 290 300 EFFYGSLDPP SSGAKPPEQA PPSPPGVGSR QGSGVAVGRA AKYSETDLDT VPLRCYRETD 310 320 330 340 350 360 IDEVLAEREE ADSAIESQPS SEGPPGTAYP PAPRPGPLPG PHPSLGSGNE DEDDDEAGGE 370 380 390 400 410 420 EDVDDEVFEA SEGARPGSRM PLKSPVPFLP GTSPSADGPD SFSCVFEAIL ESHRAKGTSY 430 440 450 460 470 480 TSLASLEALA SPGPTQSPFF TFELPPQPPA PRPDPPAPAP LAPLEPDSGT SSAADGPWTQ 490 500 510 520 530 540 RGEEEEAEAR AKLAPGREPP SPCHSEDSLG LGAAPLGSEP PLSQLVSDSD SELDSTERLA 550 560 570 580 590 600 LGSTDTLSNG QKADLEAAQR LAKRLYRLDG FRKADVARHL GKNNDFSKLV AGEYLKFFVF 610 620 630 640 650 660 TGMTLDQALR VFLKELALMG ETQERERVLA HFSQRYFQCN PEALSSEDGA HTLTCALMLL 670 680 690 700 710 720 NTDLHGHNIG KRMTCGDFIG NLEGLNDGGD FPRELLKALY SSIKNEKLQW AIDEEELRRS 730 740 750 760 770 780 LSELADPNPK VIKRISGGSG SGSSPFLDLT PEPGAAVYKH GALVRKVHAD PDCRKTPRGK 790 800 810 820 830 840 RGWKSFHGIL KGMILYLQKE EYKPGKALSE TELKNAISIH HALATRASDY SKRPHVFYLR 850 860 870 880 890 900 TADWRVFLFQ APSLEQMQSW ITRINVVAAM FSAPPFPAAV SSQKKFSRPL LPSAATRLSQ 910 920 930 940 950 960 EEQVRTHEAK LKAMASELRE HRAAQLGKKG RGKEAEEQRQ KEAYLEFEKS RYSTYAALLR 970 980 990 1000 1010 1020 VKLKAGSEEL DAVEAALAQA GSTEDGLPPS HSSPSLQPKP SSQPRAQRHS SEPRPGAGSG RRKP
	Isoform 2 [UniParc]. Checksum: 547D22FAB7C0D087	FASTA	645	70,393
	10 20 30 40 50 60 MPLKSPVPFL PGTSPSADGP DSFSCVFEAI LESHRAKGTS YTSLASLEAL ASPGPTQSPF 70 80 90 100 110 120 FTFELPPQPP APRPDPPAPA PLAPLEPDSG TSSAADGPWT QRGEEEEAEA RAKLAPGREP 130 140 150 160 170 180 PSPCHSEDSL GLGAAPLGSE PPLSQLVSDS DSELDSTERL ALGSTDTLSN GQKADLEAAQ 190 200 210 220 230 240 RLAKRLYRLD GFRKADVARH LGKNNDFSKL VAGEYLKFFV FTGMTLDQAL RVFLKELALM 250 260 270 280 290 300 GETQERERVL AHFSQRYFQC NPEALSSEDG AHTLTCALML LNTDLHGHNI GKRMTCGDFI 310 320 330 340 350 360 GNLEGLNDGG DFPRELLKAL YSSIKNEKLQ WAIDEEELRR SLSELADPNP KVIKRISGGS 370 380 390 400 410 420 GSGSSPFLDL TPEPGAAVYK HGALVRKVHA DPDCRKTPRG KRGWKSFHGI LKGMILYLQK 430 440 450 460 470 480 EEYKPGKALS ETELKNAISI HHALATRASD YSKRPHVFYL RTADWRVFLF QAPSLEQMQS 490 500 510 520 530 540 WITRINVVAA MFSAPPFPAA VSSQKKFSRP LLPSAATRLS QEEQVRTHEA KLKAMASELR 550 560 570 580 590 600 EHRAAQLGKK GRGKEAEEQR QKEAYLEFEK SRYSTYAALL RVKLKAGSEE LDAVEAALAQ 610 620 630 640 AGSTEDGLPP SHSSPSLQPK PSSQPRAQRH SSEPRPGAGS GRRKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains." Perletti L., Talarico D., Trecca D., Ronchetti D., Fracchiolla N.S., Maiolo A.T., Neri A. Genomics 46:251-259(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Brain.
[2]	"The nucleotide sequence of a long cDNA clone isolated from human." Nagase T., Kikuno R., Ohara O. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORM 1).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X99688 mRNA. Translation: CAA68002.1. AB095931 mRNA. Translation: BAC23107.1. Different initiation. AL121928 Genomic DNA. Translation: CAI12516.1. CH471066 Genomic DNA. Translation: EAW49693.1. CH471066 Genomic DNA. Translation: EAW49694.1. BC142643 mRNA. Translation: AAI42644.1. BC142689 mRNA. Translation: AAI42690.1.
IPI	IPI00217012. IPI00884984.
PIR	G01205.
RefSeq	NP_001257894.1. NM_001270965.1. NP_001257895.1. NM_001270966.1. NP_002770.3. NM_002779.4.
UniGene	Hs.154658.
3D structure databases
ProteinModelPortal	A5PKW4.
ModBase	Search...
Protein-protein interaction databases
IntAct	A5PKW4. 5 interactions.
MINT	MINT-1409056.
STRING	9606.ENSP00000020673.
PTM databases
PhosphoSite	A5PKW4.
Proteomic databases
PaxDb	A5PKW4.
PRIDE	A5PKW4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000020673; ENSP00000020673; ENSG00000059915. ENST00000406432; ENSP00000384830; ENSG00000059915.
GeneID	5662.
KEGG	hsa:5662.
UCSC	uc001kvg.1. human.
Organism-specific databases
CTD	5662.
GeneCards	GC10M104152.
H-InvDB	HIX0025909.
HGNC	HGNC:9507. PSD.
MIM	602327. gene.
neXtProt	NX_A5PKW4.
PharmGKB	PA33854.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5307.
HOGENOM	HOG000060162.
HOVERGEN	HBG106661.
InParanoid	A5PKW4.
KO	K12494.
OMA	PPQVGAD.
OrthoDB	EOG4CNQQM.
Gene expression databases
Bgee	A5PKW4.
CleanEx	HS_PSD.
Genevestigator	A5PKW4.
Family and domain databases
Gene3D	1.10.1000.11. 1 hit. 2.30.29.30. 1 hit.
InterPro	IPR001605. PH_dom-spectrin-type. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR000904. Sec7. IPR023394. SEC7_alpha_orthog. [Graphical view]
Pfam	PF00169. PH. 1 hit. PF01369. Sec7. 1 hit. [Graphical view]
PRINTS	PR00683. SPECTRINPH.
SMART	SM00233. PH. 1 hit. SM00222. Sec7. 1 hit. [Graphical view]
SUPFAM	SSF48425. Sec7. 1 hit.
PROSITE	PS50003. PH_DOMAIN. 1 hit. PS50190. SEC7. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PSD. human.
GenomeRNAi	5662.
NextBio	22002.
SOURCE	Search...

Entry information

Entry name

PSD1_HUMAN

Accession

Primary (citable) accession number: A5PKW4
Secondary accession number(s): B1AKX7 , D3DR87, Q15673, Q8IVG0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	September 23, 2008
Last modified:	May 1, 2013
This is version 56 of the entry and version 2 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.