Q9NQG7 (HPS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hermansky-Pudlak syndrome 4 protein

Alternative name(s):
Light-ear protein homolog

Gene names

Name:	HPS4
Synonyms:	KIAA1667

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	708 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May function in the pathway of organelle biogenesis.
Involvement in disease	Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence caution	The sequence BAB33337.1 differs from that shown. Reason: Frameshift at position 237. The sequence BAB33337.1 differs from that shown. Reason: Intron retention. The sequence BC035614 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Albinism Hermansky-Pudlak syndrome
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Inferred from electronic annotation. Source: Compara hemostasis Traceable author statement Ref.1. Source: UniProtKB lysosome organization Inferred from direct assay PubMed 12663659. Source: UniProtKB melanocyte differentiation Inferred from electronic annotation. Source: Compara positive regulation of eye pigmentation Traceable author statement Ref.1. Source: UniProtKB protein stabilization Inferred from physical interaction PubMed 12663659. Source: UniProtKB protein targeting Inferred from direct assay PubMed 12663659. Source: UniProtKB
Cellular_component	lysosome Inferred from direct assay PubMed 12663659. Source: UniProtKB melanosome Inferred from direct assay PubMed 12663659. Source: UniProtKB membrane Inferred from direct assay PubMed 12756248. Source: UniProtKB platelet dense granule Inferred from direct assay PubMed 12756248. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
HPS1	Q92902	15	EBI-704377,EBI-704347

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NQG7-1)

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: Q9NQG7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     236-236: G → GKWMLWSFKNRVTHQNPNG
     463-510: RRTRRPLLLP...HAAPGLECSS → KSTVLFSGGC...FFDSMRQTAG
     511-708: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NQG7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9NQG7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR
     236-236: G → GKWMLWSFKNRVTHQNPNG

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 708	708	Hermansky-Pudlak syndrome 4 protein		PRO_0000084052
Amino acid modifications
	Modified residue	355	1	Phosphoserine Ref.9
Natural variations
	Alternative sequence	1 – 14	14	MATST…KSASW → MAPLCSLAR in isoform 3 and isoform 4.		VSP_017082
	Alternative sequence	236	1	G → GKWMLWSFKNRVTHQNPNG in isoform 2 and isoform 4.		VSP_003880
	Alternative sequence	463 – 510	48	RRTRR…LECSS → KSTVLFSGGCVKGSDTQLCV PGLVWYLEPQFYYVIVRHFF DSMRQTAG in isoform 2.		VSP_003881
	Alternative sequence	511 – 708	198	Missing in isoform 2.		VSP_003882
	Natural variant	229	1	E → G. Ref.3 Ref.4 Ref.6 Corresponds to variant rs713998 [ dbSNP | Ensembl ].		VAR_025006
	Natural variant	443	1	L → V. Ref.4 Corresponds to variant rs2014410 [ dbSNP | Ensembl ].		VAR_024158
	Natural variant	552	1	V → M. Ref.4 Ref.6 Ref.7 Corresponds to variant rs5752330 [ dbSNP | Ensembl ].		VAR_025007
	Natural variant	606	1	H → Y. Ref.4 Ref.6 Ref.7 Corresponds to variant rs1894706 [ dbSNP | Ensembl ].		VAR_024159
	Natural variant	625	1	Q → H. Ref.4 Ref.7 Corresponds to variant rs1894704 [ dbSNP | Ensembl ].		VAR_021836
Experimental info
	Sequence conflict	168	1	V → A Ref.6
	Sequence conflict	430	1	A → V in BAB71540. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 6, 2002. Version 2. Checksum: E47BCF49FC78830A	FASTA	708	76,919
	10 20 30 40 50 60 MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ ELLCGQIAGV 70 80 90 100 110 120 VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL PDVSCKRFLD QLVGFFNFYN 130 140 150 160 170 180 GPVSLAYENC SQEELSTEWD TFIEQILKNT SDLHKIFNSL WNLDQTKVEP LLLLKAARIL 190 200 210 220 230 240 QTCQRSPHIL AGCILYKGLI VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGAALP 250 260 270 280 290 300 PNVQIIPVFV TKEEAISLHE FPVEQMTRSL ASPAGLQDGS AQHHPKGGST SALKENATGH 310 320 330 340 350 360 VESMAWTTPD PTSPDEACPD GRKENGCLSG HDLESIRPAG LHNSARGEVL GLSSSLGKEL 370 380 390 400 410 420 VFLQEELDLS EIHIPEAQEV EMASGHFAFL HVPVPDGRAP YCKASLSASS SLEPTPPEDT 430 440 450 460 470 480 AISSLRPPSA PEMLTQHGAQ EQLEDHPGHS SQAPIPRADP LPRRTRRPLL LPRLDPGQRG 490 500 510 520 530 540 NKLPTGEQGL DEDVDGVCES HAAPGLECSS GSANCQGAGP SADGISSRLT PAESCMGLVR 550 560 570 580 590 600 MNLYTHCVKG LVLSLLAEEP LLGDSAAIEE VYHSSLASLN GLEVHLKETL PRDEAASTSS 610 620 630 640 650 660 TYNFTHYDRI QSLLMANLPQ VATPQDRRFL QAVSLMHSEF AQLPALYEMT VRNASTAVYA 670 680 690 700 CCNPIQETYF QQLAPAARSS GFPNPQDGAF SLSGKAKQKL LKHGVNLL
	Isoform 2 [UniParc]. Checksum: 59CCB0697F2192EA	FASTA	528	58,067
	10 20 30 40 50 60 MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ ELLCGQIAGV 70 80 90 100 110 120 VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL PDVSCKRFLD QLVGFFNFYN 130 140 150 160 170 180 GPVSLAYENC SQEELSTEWD TFIEQILKNT SDLHKIFNSL WNLDQTKVEP LLLLKAARIL 190 200 210 220 230 240 QTCQRSPHIL AGCILYKGLI VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGKWML 250 260 270 280 290 300 WSFKNRVTHQ NPNGAALPPN VQIIPVFVTK EEAISLHEFP VEQMTRSLAS PAGLQDGSAQ 310 320 330 340 350 360 HHPKGGSTSA LKENATGHVE SMAWTTPDPT SPDEACPDGR KENGCLSGHD LESIRPAGLH 370 380 390 400 410 420 NSARGEVLGL SSSLGKELVF LQEELDLSEI HIPEAQEVEM ASGHFAFLHV PVPDGRAPYC 430 440 450 460 470 480 KASLSASSSL EPTPPEDTAI SSLRPPSAPE MLTQHGAQEQ LEDHPGHSSQ APIPRADPLP 490 500 510 520 KSTVLFSGGC VKGSDTQLCV PGLVWYLEPQ FYYVIVRHFF DSMRQTAG
	Isoform 3 [UniParc]. Checksum: C73D3EE841604112	FASTA	703	76,423
	10 20 30 40 50 60 MAPLCSLARW NYFFLYDGSK VKEEGDPTRA GICYFYPSQT LLDQQELLCG QIAGVVRCVS 70 80 90 100 110 120 DISDSPPTLV RLRKLKFAIK VDGDYLWVLG CAVELPDVSC KRFLDQLVGF FNFYNGPVSL 130 140 150 160 170 180 AYENCSQEEL STEWDTFIEQ ILKNTSDLHK IFNSLWNLDQ TKVEPLLLLK AARILQTCQR 190 200 210 220 230 240 SPHILAGCIL YKGLIVSTQL PPSLTAKVLL HRTAPQEQRL PTGEDAPQEH GAALPPNVQI 250 260 270 280 290 300 IPVFVTKEEA ISLHEFPVEQ MTRSLASPAG LQDGSAQHHP KGGSTSALKE NATGHVESMA 310 320 330 340 350 360 WTTPDPTSPD EACPDGRKEN GCLSGHDLES IRPAGLHNSA RGEVLGLSSS LGKELVFLQE 370 380 390 400 410 420 ELDLSEIHIP EAQEVEMASG HFAFLHVPVP DGRAPYCKAS LSASSSLEPT PPEDTAISSL 430 440 450 460 470 480 RPPSAPEMLT QHGAQEQLED HPGHSSQAPI PRADPLPRRT RRPLLLPRLD PGQRGNKLPT 490 500 510 520 530 540 GEQGLDEDVD GVCESHAAPG LECSSGSANC QGAGPSADGI SSRLTPAESC MGLVRMNLYT 550 560 570 580 590 600 HCVKGLVLSL LAEEPLLGDS AAIEEVYHSS LASLNGLEVH LKETLPRDEA ASTSSTYNFT 610 620 630 640 650 660 HYDRIQSLLM ANLPQVATPQ DRRFLQAVSL MHSEFAQLPA LYEMTVRNAS TAVYACCNPI 670 680 690 700 QETYFQQLAP AARSSGFPNP QDGAFSLSGK AKQKLLKHGV NLL
	Isoform 4 [UniParc]. Checksum: 60F5499DBDBAF003	FASTA	721	78,648
	10 20 30 40 50 60 MAPLCSLARW NYFFLYDGSK VKEEGDPTRA GICYFYPSQT LLDQQELLCG QIAGVVRCVS 70 80 90 100 110 120 DISDSPPTLV RLRKLKFAIK VDGDYLWVLG CAVELPDVSC KRFLDQLVGF FNFYNGPVSL 130 140 150 160 170 180 AYENCSQEEL STEWDTFIEQ ILKNTSDLHK IFNSLWNLDQ TKVEPLLLLK AARILQTCQR 190 200 210 220 230 240 SPHILAGCIL YKGLIVSTQL PPSLTAKVLL HRTAPQEQRL PTGEDAPQEH GKWMLWSFKN 250 260 270 280 290 300 RVTHQNPNGA ALPPNVQIIP VFVTKEEAIS LHEFPVEQMT RSLASPAGLQ DGSAQHHPKG 310 320 330 340 350 360 GSTSALKENA TGHVESMAWT TPDPTSPDEA CPDGRKENGC LSGHDLESIR PAGLHNSARG 370 380 390 400 410 420 EVLGLSSSLG KELVFLQEEL DLSEIHIPEA QEVEMASGHF AFLHVPVPDG RAPYCKASLS 430 440 450 460 470 480 ASSSLEPTPP EDTAISSLRP PSAPEMLTQH GAQEQLEDHP GHSSQAPIPR ADPLPRRTRR 490 500 510 520 530 540 PLLLPRLDPG QRGNKLPTGE QGLDEDVDGV CESHAAPGLE CSSGSANCQG AGPSADGISS 550 560 570 580 590 600 RLTPAESCMG LVRMNLYTHC VKGLVLSLLA EEPLLGDSAA IEEVYHSSLA SLNGLEVHLK 610 620 630 640 650 660 ETLPRDEAAS TSSTYNFTHY DRIQSLLMAN LPQVATPQDR RFLQAVSLMH SEFAQLPALY 670 680 690 700 710 720 EMTVRNASTA VYACCNPIQE TYFQQLAPAA RSSGFPNPQD GAFSLSGKAK QKLLKHGVNL L

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene." Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K., Fong C.-T., Castellan C., Miterski B., Swank R.T., Spritz R.A. Nat. Genet. 30:321-324(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN HPS4.
[2]	"Reevaluating human gene annotation: a second-generation analysis of chromosome 22." Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I. Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]	"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. , 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), VARIANT GLY-229. Tissue: Trachea.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLY-229; VAL-443; MET-552; TYR-606 AND HIS-625. Tissue: Testis.
[5]	"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].
[6]	"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 4), VARIANTS GLY-229; MET-552 AND TYR-606. Tissue: Testis.
[7]	"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping." Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O. DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 204-708 (ISOFORM 1), VARIANTS MET-552; TYR-606 AND HIS-625. Tissue: Brain.
[8]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Platelet.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-355, MASS SPECTROMETRY. Tissue: Leukemic T-cell.

Web resources

Mutations of the HPS4 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY043416 mRNA. Translation: AAK95330.1. AL365512 mRNA. Translation: CAB97208.1. AK057648 mRNA. Translation: BAB71540.1. AL713795 mRNA. Translation: CAD28549.1. Z99714 Genomic DNA. Translation: CAI17880.1. Z99714 Genomic DNA. Translation: CAQ09361.1. BC035614 mRNA. No translation available. AB051454 mRNA. Translation: BAB33337.1. Sequence problems.
IPI	IPI00152931. IPI00220743. IPI00375189. IPI00375190.
RefSeq	NP_071364.4. NM_022081.5. NP_690054.1. NM_152841.2.
UniGene	Hs.474436. Hs.665381.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NQG7. 2 interactions.
STRING	9606.ENSP00000338457.
PTM databases
PhosphoSite	Q9NQG7.
Polymorphism databases
DMDM	21362617.
Proteomic databases
PaxDb	Q9NQG7.
PRIDE	Q9NQG7.
Protocols and materials databases
DNASU	89781.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000336873; ENSP00000338457; ENSG00000100099. ENST00000398141; ENSP00000381210; ENSG00000100099. ENST00000398145; ENSP00000381213; ENSG00000100099. ENST00000402105; ENSP00000384185; ENSG00000100099.
GeneID	89781.
KEGG	hsa:89781.
UCSC	uc003ach.3. human. uc003aci.3. human. uc003acj.3. human.
Organism-specific databases
CTD	89781.
GeneCards	GC22M026840.
HGNC	HGNC:15844. HPS4.
HPA	CAB033106.
MIM	606682. gene. 614073. phenotype.
neXtProt	NX_Q9NQG7.
Orphanet	231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKB	PA29434.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG85637.
HOVERGEN	HBG031612.
OMA	EVYHSSL.
OrthoDB	EOG4PRSQD.
PhylomeDB	Q9NQG7.
Gene expression databases
ArrayExpress	Q9NQG7.
Bgee	Q9NQG7.
CleanEx	HS_HPS4.
Genevestigator	Q9NQG7.
GermOnline	ENSG00000100099. Homo sapiens.
Family and domain databases
InterPro	IPR026091. HPS4. [Graphical view]
PANTHER	PTHR14407. PTHR14407. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	89781.
NextBio	76267.
SOURCE	Search...

Entry information

Entry name

HPS4_HUMAN

Accession

Primary (citable) accession number: Q9NQG7
Secondary accession number(s): B1AHQ4 , Q5H8V6, Q96LX6, Q9BY93, Q9UH37, Q9UH38

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 6, 2002
Last sequence update:	June 6, 2002
Last modified:	May 1, 2013
This is version 103 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.