Reviewed, UniProtKB/Swiss-Prot Q495B1 (AKD1A_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and death domain-containing protein 1A

Gene names

Name:

ANKDD1A

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	423 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

Contains 9 ANK repeats. Contains 1 death domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat Signal
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Isoform 1 (identifier: Q495B1-1)

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: Q495B1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     264-295: Missing.
     404-423: ENIRKKANAAPSAPRRCTAM → GWSTMARSQLTATSASRVQMILVPQPPE

Isoform 3 (identifier: Q495B1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     166-181: KNLSCLHYAALSGSED → VARPSQDCGRLLAAEP
     182-423: Missing.

Isoform 4 (identifier: Q495B1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     166-181: KNLSCLHYAALSGSED → VARPSQDCGRLLAAEP
     182-423: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 423	399	Ankyrin repeat and death domain-containing protein 1A
Regions
	Repeat	1 – 28	28	ANK 1
	Repeat	32 – 61	30	ANK 2
	Repeat	67 – 96	30	ANK 3
	Repeat	100 – 129	30	ANK 4
	Repeat	133 – 162	30	ANK 5
	Repeat	166 – 195	30	ANK 6
	Repeat	199 – 228	30	ANK 7
	Repeat	232 – 261	30	ANK 8
	Repeat	265 – 294	30	ANK 9
	Domain	322 – 410	89	Death
Natural variations
	Alternative sequence	1 – 52	52	Missing in isoform 3.
	Alternative sequence	166 – 181	16	KNLSC…SGSED → VARPSQDCGRLLAAEP in isoform 3 and isoform 4.
	Alternative sequence	182 – 423	242	Missing in isoform 3 and isoform 4.
	Alternative sequence	264 – 295	32	Missing in isoform 2.
	Alternative sequence	404 – 423	20	ENIRK…RCTAM → GWSTMARSQLTATSASRVQM ILVPQPPE in isoform 2.
	Natural variant	264	1	K → E: dbSNP rs34988193.

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 13, 2005. Version 1. Checksum: 4A01DDC3D5274D72	FASTA	423	46,551
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQKNLSC LHYAALSGSE 190 200 210 220 230 240 DVSRVLIHAG GCANVVDHQG ASPLHLAVRH NFPALVRLLI NSDSDVNAVD NRQQTPLHLA 250 260 270 280 290 300 AEHAWQDIAD MLLIAGVDLN LRDKQGKTAL AVAVRSNHVS LVDMIIKADR FYRWEKDHPS 310 320 330 340 350 360 DPSGKSLSFK QDHRQETQQL RSVLWRLASR YLQPREWKKL AYSWEFTEAH VDAIEQQWTG 370 380 390 400 410 420 TRSYQEHGHR MLLIWLHGVA TAGENPSKAL FEGLVAIGRR DLAENIRKKA NAAPSAPRRC TAM
	Isoform 2 [UniParc]. Checksum: 758E8AC2B8358EA7		399	43,724
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQKNLSC LHYAALSGSE 190 200 210 220 230 240 DVSRVLIHAG GCANVVDHQG ASPLHLAVRH NFPALVRLLI NSDSDVNAVD NRQQTPLHLA 250 260 270 280 290 300 AEHAWQDIAD MLLIAGVDLN LRDKDHPSDP SGKSLSFKQD HRQETQQLRS VLWRLASRYL 310 320 330 340 350 360 QPREWKKLAY SWEFTEAHVD AIEQQWTGTR SYQEHGHRML LIWLHGVATA GENPSKALFE 370 380 390 GLVAIGRRDL AGWSTMARSQ LTATSASRVQ MILVPQPPE
	Isoform 3 [UniParc]. Checksum: 1067B1CF31D45BFF		129	13,620
	10 20 30 40 50 60 MEDLEDVALD HVDKLGRTAF HRAAEHGQLD ALDFLVGSGC DHNVKDKEGN TALHLAAGRG 70 80 90 100 110 120 HMAVLQRLVD IGLDLEEQNA EGLTALHSAA GGSHPDCVQL LLRAGSTVNA LTQVARPSQD CGRLLAAEP
	Isoform 4 [UniParc]. Checksum: 51CC70CD313E7E4B		181	19,252
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQVARPS QDCGRLLAAE P

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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4). Tissue: Brain.

[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLU-264.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK075298 mRNA. Translation: BAC11532.1. AK098736 mRNA. Translation: BAC05399.1. BC101273 mRNA. Translation: AAI01274.1. BC101274 mRNA. Translation: AAI01275.1. BC101275 mRNA. Translation: AAI01276.1.
RefSeq	NP_874362.3.
UniGene	Hs.207157
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000166839. Homo sapiens. [Contig view]
GeneID	348094.
KEGG	hsa:348094.
Organism-specific databases
HGNC	HGNC:28002. ANKDD1A.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOVERGEN	Q495B1.
Gene expression databases
ArrayExpress	Q495B1.
CleanEx	HS_ANKDD1A.
Family and domain databases
InterPro	IPR002110. ANK. IPR000488. Death. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 9 hits. PF00531. Death. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 9 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 6 hits. PS50017. DEATH_DOMAIN. 1 hit. [Graphical view]
ProDom	Q495B1. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

Entry information

Entry name

AKD1A_HUMAN

Accession

Primary (citable) accession number: Q495B1
Secondary accession number(s): Q495B2 , Q495B3, Q8N7A0, Q8NBS5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	September 13, 2005
Last modified:	July 22, 2008
This is version 27 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)