Q6ZPD9 (D19L3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable C-mannosyltransferase DPY19L3
EC=2.4.1.-

Alternative name(s):
Dpy-19-like protein 3
Protein dpy-19 homolog 3

Gene names

Name:

DPY19L3

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

General annotation (Comments)

Function	Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Widely expressed. Ref.4
Sequence similarities	Belongs to the dpy-19 family.
Sequence caution	The sequence BAC86508.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q6ZPD9-1)

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: Q6ZPD9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     539-542: FWPG → NQKS
     543-716: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 716	716	Probable C-mannosyltransferase DPY19L3		PRO_0000311901
Regions
	Transmembrane	44 – 64	21	Helical; Potential
	Transmembrane	156 – 174	19	Helical; Potential
	Transmembrane	179 – 195	17	Helical; Potential
	Transmembrane	215 – 235	21	Helical; Potential
	Transmembrane	244 – 264	21	Helical; Potential
	Transmembrane	269 – 289	21	Helical; Potential
	Transmembrane	298 – 318	21	Helical; Potential
	Transmembrane	342 – 362	21	Helical; Potential
	Transmembrane	417 – 437	21	Helical; Potential
	Transmembrane	461 – 481	21	Helical; Potential
	Transmembrane	489 – 509	21	Helical; Potential
	Transmembrane	527 – 547	21	Helical; Potential
Natural variations
	Alternative sequence	539 – 542	4	FWPG → NQKS in isoform 2.		VSP_029634
	Alternative sequence	543 – 716	174	Missing in isoform 2.		VSP_029635
	Natural variant	350	1	M → V. Corresponds to variant rs8105178 [ dbSNP | Ensembl ].		VAR_037336
Experimental info
	Sequence conflict	482	1	R → G in BAC86676. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: EE76B5A54024A8CC	FASTA	716	83,197
	10 20 30 40 50 60 MMSIRQRREI RATEVSEDFP AQEENVKLEN KLPSGCTSRR LWKILSLTIG GTIALCIGLL 70 80 90 100 110 120 TSVYLATLHE NDLWFSNIKE VEREISFRTE CGLYYSYYKQ MLQAPTLVQG FHGLIYDNKT 130 140 150 160 170 180 ESMKTINLLQ RMNIYQEVFL SILYRVLPIQ KYLEPVYFYI YTLFGLQAIY VTALYITSWL 190 200 210 220 230 240 LSGTWLSGLL AAFWYVTNRI DTTRVEFTIP LRENWALPFF AIQIAAITYF LRPNLQPLSE 250 260 270 280 290 300 RLTLLAIFIS TFLFSLTWQF NQFMMLMQAL VLFTLDSLDM LPAVKATWLY GIQITSLLLV 310 320 330 340 350 360 CILQFFNSMI LGSLLISFNL SVFIARKLQK NLKTGSFLNR LGKLLLHLFM VLCLTLFLNN 370 380 390 400 410 420 IIKKILNLKS DEHIFKFLKA KFGLGATRDF DANLYLCEEA FGLLPFNTFG RLSDTLLFYA 430 440 450 460 470 480 YIFVLSITVI VAFVVAFHNL SDSTNQQSVG KMEKGTVDLK PETAYNLIHT ILFGFLALST 490 500 510 520 530 540 MRMKYLWTSH MCVFASFGLC SPEIWELLLK SVHLYNPKRI CIMRYSVPIL ILLYLCYKFW 550 560 570 580 590 600 PGMMDELSEL REFYDPDTVE LMNWINSNTP RKAVFAGSMQ LLAGVKLCTG RTLTNHPHYE 610 620 630 640 650 660 DSSLRERTRA VYQIYAKRAP EEVHALLRSF GTDYVILEDS ICYERRHRRG CRLRDLLDIA 670 680 690 700 710 NGHMMDGPGE NDPDLKPADH PRFCEEIKRN LPPYVAYFTR VFQNKTFHVY KLSRNK
	Isoform 2 [UniParc]. Checksum: CA1B8E2C37874908	FASTA	542	62,774
	10 20 30 40 50 60 MMSIRQRREI RATEVSEDFP AQEENVKLEN KLPSGCTSRR LWKILSLTIG GTIALCIGLL 70 80 90 100 110 120 TSVYLATLHE NDLWFSNIKE VEREISFRTE CGLYYSYYKQ MLQAPTLVQG FHGLIYDNKT 130 140 150 160 170 180 ESMKTINLLQ RMNIYQEVFL SILYRVLPIQ KYLEPVYFYI YTLFGLQAIY VTALYITSWL 190 200 210 220 230 240 LSGTWLSGLL AAFWYVTNRI DTTRVEFTIP LRENWALPFF AIQIAAITYF LRPNLQPLSE 250 260 270 280 290 300 RLTLLAIFIS TFLFSLTWQF NQFMMLMQAL VLFTLDSLDM LPAVKATWLY GIQITSLLLV 310 320 330 340 350 360 CILQFFNSMI LGSLLISFNL SVFIARKLQK NLKTGSFLNR LGKLLLHLFM VLCLTLFLNN 370 380 390 400 410 420 IIKKILNLKS DEHIFKFLKA KFGLGATRDF DANLYLCEEA FGLLPFNTFG RLSDTLLFYA 430 440 450 460 470 480 YIFVLSITVI VAFVVAFHNL SDSTNQQSVG KMEKGTVDLK PETAYNLIHT ILFGFLALST 490 500 510 520 530 540 MRMKYLWTSH MCVFASFGLC SPEIWELLLK SVHLYNPKRI CIMRYSVPIL ILLYLCYKNQ KS

References

	« Hide 'large scale' referencesShow '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. , 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 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 235-716 (ISOFORM 2). Tissue: Brain, Cerebellum and Trachea.
[2]	"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).
[3]	"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] OF 203-716 (ISOFORM 1). Tissue: Prostate.
[4]	"Duplication and relocation of the functional DPY19L2 gene within low copy repeats." Carson A.R., Cheung J., Scherer S.W. BMC Genomics 7:45-45(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK126264 mRNA. Translation: BAC86508.1. Different initiation. AK126757 mRNA. Translation: BAC86676.1. AK129497 mRNA. Translation: BAC85166.1. BC131725 mRNA. Translation: AAI31726.1. CR749459 mRNA. Translation: CAH18293.1.
IPI	IPI00410211. IPI00472828.
RefSeq	NP_001166245.1. NM_001172774.1. NP_997208.2. NM_207325.2.
UniGene	Hs.194392.
3D structure databases
ProteinModelPortal	Q6ZPD9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6ZPD9. 2 interactions.
STRING	9606.ENSP00000344937.
PTM databases
PhosphoSite	Q6ZPD9.
Polymorphism databases
DMDM	74710923.
Proteomic databases
PaxDb	Q6ZPD9.
PRIDE	Q6ZPD9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342179; ENSP00000344937; ENSG00000178904. ENST00000392250; ENSP00000376081; ENSG00000178904.
GeneID	147991.
KEGG	hsa:147991.
UCSC	uc002ntg.3. human.
Organism-specific databases
CTD	147991.
GeneCards	GC19P032897.
H-InvDB	HIX0014990.
HGNC	HGNC:27120. DPY19L3.
HPA	HPA008325.
MIM	613894. gene.
neXtProt	NX_Q6ZPD9.
PharmGKB	PA142671954.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG236656.
HOGENOM	HOG000007319.
HOVERGEN	HBG107792.
InParanoid	Q6ZPD9.
OMA	MMLMQAL.
OrthoDB	EOG46MBJB.
PhylomeDB	Q6ZPD9.
Gene expression databases
ArrayExpress	Q6ZPD9.
Bgee	Q6ZPD9.
CleanEx	HS_DPY19L3.
Genevestigator	Q6ZPD9.
Family and domain databases
InterPro	IPR018732. Dpy-19. [Graphical view]
Pfam	PF10034. Dpy19. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	147991.
NextBio	85804.
SOURCE	Search...

Entry information

Entry name

D19L3_HUMAN

Accession

Primary (citable) accession number: Q6ZPD9
Secondary accession number(s): Q68DC7, Q6ZTB7, Q6ZTS2

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	July 5, 2004
Last modified:	May 29, 2013
This is version 66 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.