Q6NSJ2 (PHLB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pleckstrin homology-like domain family B member 3

Gene names

Name:

PHLDB3

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

General annotation (Comments)

Domain	The PH domain mediates the binding to phosphoinositides By similarity.
Sequence similarities	Contains 1 PH domain.
Sequence caution	The sequence BAC05082.1 differs from that shown. Reason: Erroneous termination at position 169. Translated as Glu.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q6NSJ2-1)

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: Q6NSJ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     276-279: RGAL → VSHA
     280-640: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 640	640	Pleckstrin homology-like domain family B member 3		PRO_0000053896
Regions
	Domain	532 – 635	104	PH
	Coiled coil	104 – 327	224	Potential
	Coiled coil	454 – 481	28	Potential
Natural variations
	Alternative sequence	276 – 279	4	RGAL → VSHA in isoform 2.		VSP_039923
	Alternative sequence	280 – 640	361	Missing in isoform 2.		VSP_039924
	Natural variant	239	1	Q → R. Ref.3 Corresponds to variant rs11083711 [ dbSNP | Ensembl ].		VAR_056671

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: A752825E3FFBFEDE	FASTA	640	71,912
	10 20 30 40 50 60 MGTRSSPEEG TPPPLVPECD VEVQPQGHPE ESREQEASEV LAEPSSRGGA EQQAEEEEVG 70 80 90 100 110 120 EGSSTESSRD APEATPPIAM AATPPASTSS REGVRGAARR LQGQQLEALT RVALMEQRVK 130 140 150 160 170 180 ELQRQRKELR IEMEVEVALL RGELAGERVA ARREEEQLRE LLEQQAASEQ RGRQQREQEQ 190 200 210 220 230 240 RRLSQERDRL EGLRQRLRKA QGQLDSQPED QRERLLQGVQ EMREQLDVAQ RAYEDLEFQQ 250 260 270 280 290 300 LERESRQEEE DRDSPGPQVP DPKVQELQAS MAQHRRGALQ HRIRVLEEQL KSLGEQMAAE 310 320 330 340 350 360 SRGLSRKKEE ALQALSQERS RLLELNCLQG TPGGDFSEPN PALTKLLFTQ KTDRQLLVLQ 370 380 390 400 410 420 DAVAHSAATP TSSCLFSVHS SLQGSIGLQR TGSLPRKRGE RGSQRGSPRP LSFHCTESLE 430 440 450 460 470 480 ASALPPAVGD SGRYPLYQLL NCGRGNSCGA IHPDIAHMER LLQQAMAERE RLLKAREGTR 490 500 510 520 530 540 RGTEGSSGPA VPAITAPPTP PHPPGPRILD LRQHLEGWGH NPENCPHVQV SGCCCRGPLV 550 560 570 580 590 600 KMGGRIKTWR KRWFCFDRQA RRLAYYADKE ETKLKGVIYF QAIEEVYYDH LRCAFKSPNP 610 620 630 640 RLTFCVKTYE RLFYMVAPSP EAMRIWMDVI VTAADENHAP
	Isoform 2 [UniParc]. Checksum: C4222E0A2492FE1C	FASTA	279	31,642
	10 20 30 40 50 60 MGTRSSPEEG TPPPLVPECD VEVQPQGHPE ESREQEASEV LAEPSSRGGA EQQAEEEEVG 70 80 90 100 110 120 EGSSTESSRD APEATPPIAM AATPPASTSS REGVRGAARR LQGQQLEALT RVALMEQRVK 130 140 150 160 170 180 ELQRQRKELR IEMEVEVALL RGELAGERVA ARREEEQLRE LLEQQAASEQ RGRQQREQEQ 190 200 210 220 230 240 RRLSQERDRL EGLRQRLRKA QGQLDSQPED QRERLLQGVQ EMREQLDVAQ RAYEDLEFQQ 250 260 270 LERESRQEEE DRDSPGPQVP DPKVQELQAS MAQHRVSHA

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. , 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: Testis.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [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] (ISOFORM 2), VARIANT ARG-239. Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK097512 mRNA. Translation: BAC05082.1. Sequence problems. AC018758 Genomic DNA. No translation available. BC070094 mRNA. Translation: AAH70094.1.
IPI	IPI00394794. IPI00879509.
RefSeq	NP_942147.3. NM_198850.3.
UniGene	Hs.631581.
3D structure databases
ProteinModelPortal	Q6NSJ2.
SMR	Q6NSJ2. Positions 537-630.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6NSJ2. 1 interaction.
STRING	9606.ENSP00000292140.
PTM databases
PhosphoSite	Q6NSJ2.
Polymorphism databases
DMDM	311033417.
Proteomic databases
PaxDb	Q6NSJ2.
PRIDE	Q6NSJ2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292140; ENSP00000292140; ENSG00000176531. ENST00000599242; ENSP00000471158; ENSG00000176531.
GeneID	653583.
KEGG	hsa:653583.
UCSC	uc002own.4. human. uc002owo.3. human.
Organism-specific databases
CTD	653583.
GeneCards	GC19M043983.
HGNC	HGNC:30499. PHLDB3.
HPA	HPA043425.
neXtProt	NX_Q6NSJ2.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG305839.
HOGENOM	HOG000203943.
OMA	QLLNCGP.
Gene expression databases
Bgee	Q6NSJ2.
CleanEx	HS_PHLDB3.
Genevestigator	Q6NSJ2.
GermOnline	ENSG00000176531. 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	653583.
NextBio	123440.

Entry information

Entry name

PHLB3_HUMAN

Accession

Primary (citable) accession number: Q6NSJ2
Secondary accession number(s): Q8N7Z4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 73 of the entry and version 3 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.