Reviewed, UniProtKB/Swiss-Prot Q8N5C7 (DTWD1_HUMAN)

Names and origin

Protein names

Recommended name:
    DTW domain-containing protein 1

Gene names

Name:	DTWD1
ORF Names:	MDS009

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	304 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Domain	Contains 1 DXTW motif.
Sequence similarities	Belongs to the DTW family.
Sequence caution	The sequence AAF87319.1 differs from that shown. Reason: Frameshift at positions 132, 182, 187, 188, 192, 194, 196, 199, 204, 207 and 209.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N5C7-1)

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: Q8N5C7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-88: MSLNPPIFLK...VPIEQIPLVK → M

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8N5C7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     89-304: LPLKIDIIKH...GDKETGKLTH → FSLYHLGQSMVSSASKITCIG

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 304	304	DTW domain-containing protein 1		PRO_0000308212
Regions
	Motif	206 – 209	4	DXTW
Natural variations
	Alternative sequence	1 – 88	88	MSLNP…IPLVK → M in isoform 2.		VSP_028922
	Alternative sequence	89 – 304	216	LPLKI…GKLTH → FSLYHLGQSMVSSASKITCI G in isoform 3.		VSP_028923
	Natural variant	9	1	L → P: dbSNP rs11539522.		VAR_036757
	Natural variant	13	1	E → K: dbSNP rs11539519.		VAR_036758
	Natural variant	25	1	S → P: dbSNP rs11539521.		VAR_036759

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 8756C5CE34BA0C28	FASTA	304	35,248
	10 20 30 40 50 60 MSLNPPIFLK RSEENSSKFV ETKQSQTTSI ASEDPLQNLC LASQEVLQKA QQSGRSKCLK 70 80 90 100 110 120 CGGSRMFYCY TCYVPVENVP IEQIPLVKLP LKIDIIKHPN ETDGKSTAIH AKLLAPEFVN 130 140 150 160 170 180 IYTYPCIPEY EEKDHEVALI FPGPQSISIK DISFHLQKRI QNNVRGKNDD PDKPSFKRKR 190 200 210 220 230 240 TEEQEFCDLN DSKCKGTTLK KIIFIDSTWN QTNKIFTDER LQGLLQVELK TRKTCFWRHQ 250 260 270 280 290 300 KGKPDTFLST IEAIYYFLVD YHTDILKEKY RGQYDNLLFF YSFMYQLIKN AKCSGDKETG KLTH
	Isoform 2. Checksum: 141BE335CAFE0BF9	FASTA	217	25,522
	10 20 30 40 50 60 MLPLKIDIIK HPNETDGKST AIHAKLLAPE FVNIYTYPCI PEYEEKDHEV ALIFPGPQSI 70 80 90 100 110 120 SIKDISFHLQ KRIQNNVRGK NDDPDKPSFK RKRTEEQEFC DLNDSKCKGT TLKKIIFIDS 130 140 150 160 170 180 TWNQTNKIFT DERLQGLLQV ELKTRKTCFW RHQKGKPDTF LSTIEAIYYF LVDYHTDILK 190 200 210 EKYRGQYDNL LFFYSFMYQL IKNAKCSGDK ETGKLTH
	Isoform 3. Checksum: 070ECED227DE2E92	FASTA	109	12,087
	10 20 30 40 50 60 MSLNPPIFLK RSEENSSKFV ETKQSQTTSI ASEDPLQNLC LASQEVLQKA QQSGRSKCLK 70 80 90 100 CGGSRMFYCY TCYVPVENVP IEQIPLVKFS LYHLGQSMVS SASKITCIG

References

[1]	"Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndromes patient." Huang C., Zhang C., Tu Y., Gu W., Wang Y., Han Z., Chen Z., Zhou J., Gu J., Huang Q., Yu Y., Xu S., Ren S., Fu G. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Hematopoietic stem cell.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed: 16572171] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Brain, Skin and Thyroid.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF168717 mRNA. Translation: AAF87319.1. Frameshift. AC018927 Genomic DNA. No translation available. BC018028 mRNA. Translation: AAH18028.1. BC032535 mRNA. Translation: AAH32535.1. BC093073 mRNA. Translation: AAH93073.1.
IPI	IPI00103123. IPI00328939. IPI00869117.
RefSeq	NP_001138427.1. NP_064619.2.
UniGene	Hs.127432
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q8N5C7.
Genome annotation databases
Ensembl	ENSG00000104047. Homo sapiens. [Contig view]
GeneID	56986.
KEGG	hsa:56986.
Organism-specific databases
GeneCards	GC15P047701.
HGNC	HGNC:30926. DTWD1.
PharmGKB	PA142671942.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8N5C7.
HOVERGEN	Q8N5C7.
OMA	Q8N5C7. SASKITY.
Gene expression databases
ArrayExpress	Q8N5C7.
Bgee	Q8N5C7.
CleanEx	HS_DTWD1.
Family and domain databases
InterPro	IPR005636. DTW. [Graphical view]
Pfam	PF03942. DTW. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	62671.

Entry information

Entry name

DTWD1_HUMAN

Accession

Primary (citable) accession number: Q8N5C7
Secondary accession number(s): Q567Q3, Q8WVG9, Q9NRU6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	October 1, 2002
Last modified:	June 16, 2009
This is version 36 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)