Q2M3V2 (SWAHA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein SOWAHA

Alternative name(s):
Ankyrin repeat domain-containing protein 43
Protein sosondowah homolog A

Gene names

Name:	SOWAHA
Synonyms:	ANKRD43

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	549 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the SOWAH family. Contains 2 ANK repeats.
Sequence caution	The sequence AAI04772.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI04776.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC03975.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	ANK repeat Repeat Signal
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 549	532	Ankyrin repeat domain-containing protein SOWAHA		PRO_0000244373
Regions
	Repeat	345 – 374	30	ANK 1
	Repeat	384 – 414	31	ANK 2
	Compositional bias	83 – 309	227	Pro-rich
Natural variations
	Natural variant	124	1	R → P. Corresponds to variant rs40274 [ dbSNP | Ensembl ].		VAR_059125
	Natural variant	545	1	F → L. Ref.2 Ref.3 Corresponds to variant rs40470 [ dbSNP | Ensembl ].		VAR_060465

Sequences

	Sequence		Length	Mass (Da)
	Q2M3V2 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 07401B2E2F134F6C	FASTA	549	57,443
	10 20 30 40 50 60 MALAAAAAAA AAGVSQAAVL GFLQEHGGKV RNSELLSRFK PLLDAGDPRG RAARRDRFKQ 70 80 90 100 110 120 FVNNVAVVKE LDGVKFVVLR KKPRPPEPEP APFGPPGAAA QPSKPTSTVL PRSASAPGAP 130 140 150 160 170 180 PLVRVPRPVE PPGDLGLPTE PQDTPGGPAS EPAQPPGERS ADPPLPALEL AQATERPSAD 190 200 210 220 230 240 AAPPPRAPSE AASPCSDPPD AEPGPGAAKG PPQQKPCMLP VRCVPAPATL RLRAEEPGLR 250 260 270 280 290 300 RQLSEEPSPR SSPLLLRRLS VEESGLGLGL GPGRSPHLRR LSRAGPRLLS PDAEELPAAP 310 320 330 340 350 360 PPSAVPLEPS EHEWLVRTAG GRWTHQLHGL LLRDRGLAAK RDFMSGFTAL HWAAKSGDGE 370 380 390 400 410 420 MALQLVEVAR RSGAPVDVNA RSHGGYTPLH LAALHGHEDA AVLLVVRLGA QVHVRDHSGR 430 440 450 460 470 480 RAYQYLRPGS SYALRRLLGD PGLRGTTEPD ATGGGSGSLA ARRPVQVAAT ILSSTTSAFL 490 500 510 520 530 540 GVLADDLMLQ DLARGLKKSS SFSKFLSASP MAPRKKTKIR GGLPAFSEIS RRPTPGPLAG LVPSFPPTT

References

[1]	"The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M. Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] OF 192-549, VARIANT LEU-545. Tissue: Brain.
[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] OF 254-549, VARIANT LEU-545. Tissue: Small intestine.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC004775 Genomic DNA. No translation available. BC104771 mRNA. Translation: AAI04772.1. Different initiation. BC104775 mRNA. Translation: AAI04776.1. Different initiation. AK092782 mRNA. Translation: BAC03975.1. Different initiation.
IPI	IPI00176199.
RefSeq	NP_787069.3. NM_175873.4.
UniGene	Hs.13308.
3D structure databases
ProteinModelPortal	Q2M3V2.
SMR	Q2M3V2. Positions 314-487.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000367965.
PTM databases
PhosphoSite	Q2M3V2.
Polymorphism databases
DMDM	296439442.
Proteomic databases
PaxDb	Q2M3V2.
PRIDE	Q2M3V2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000378693; ENSP00000367965; ENSG00000198944.
GeneID	134548.
KEGG	hsa:134548.
UCSC	uc003kxw.3. human.
Organism-specific databases
CTD	134548.
GeneCards	GC05P132150.
H-InvDB	HIX0005161. HIX0164324.
HGNC	HGNC:27033. SOWAHA.
neXtProt	NX_Q2M3V2.
PharmGKB	PA142672610.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG130045.
HOGENOM	HOG000033965.
HOVERGEN	HBG100446.
InParanoid	Q2M3V2.
OMA	RRDRFKQ.
OrthoDB	EOG4T1HN2.
Gene expression databases
Bgee	Q2M3V2.
CleanEx	HS_ANKRD43.
Genevestigator	Q2M3V2.
GermOnline	ENSG00000198944. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.20. 1 hit.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Pfam	PF12796. Ank_2. 1 hit. [Graphical view]
SMART	SM00248. ANK. 2 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	134548.
NextBio	83401.

Entry information

Entry name

SWAHA_HUMAN

Accession

Primary (citable) accession number: Q2M3V2
Secondary accession number(s): Q8NAE7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 63 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.