HFM1 - helicase for meiosis 1 Gene

Also Known as MER3; POF9; Si-11; SEC63D1; Si-11-6; helicase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 164045

About HFM1

Cytogenetic location: 1p22.2 Genomic coordinates (GRCh38): 1:91,260,766-91,408,007 (from NCBI)

This gene has 9 transcripts (splice variants), 183 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 6.6), ovary (RPKM 1.4) and 3 other tissues.

Summary

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

HFM1 Products (1)

mRNA	Protein	Name
NM_001017975.6	NP_001017975.5	probable ATP-dependent DNA helicase HFM1

HFM1 Protein Structure

DEAD

Helicase_C

Sec63

0
300
600
900
1200
1435 a.a.

Protein Preferred Names	Protein Names
probable ATP-dependent DNA helicase HFM1	HFM1, ATP dependent DNA helicase homolog

Related Diseases

Diseases	Alias
Premature Ovarian Failure 9	POF9 Ovarian Failure, Premature, Type 9
Spermatogenic Failure 4	Spermatogenesis Arrest SPGF4 Azoospermia Due To Perturbations Of Meiosis Azoospermia With Maturation Arrest Pregnancy Loss, Recurrent, 4 Arrest Of Spermatogenesis RPRGL4 Recurrent Pregnancy Loss 4
Genetic Non-Acquired Premature Ovarian Failure
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Immunodeficiency 25	Immunodeficiency Due To Defect In Cd3-Zeta IMD25 Immunodeficiency, Type 25
Periarthritis
Frozen Shoulder	Adhesive Capsulitis Of Shoulder Bursitis Adhesions-Capsulitis,Shoulder Pericapsulitis Of Shoulder Duplay Bursitis Adhesive Shoulder Peritendinitis Subscapular Adhesion Shoulder Adhesion Adhesive Enthesopathy Of Shoulder Region Adhesive Peritendinitis Adhesive Shoulder Tenosynovitis Duplay Periarthritis Adhesive Shoulder Tendinitis
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Bursitis	Bursitis, Not Otherwise Specified Inflammation Of Bursa
Hypotonia-Cystinuria Syndrome	Cystinuria With Mitochondrial Disease 2p21 Microdeletion Syndrome HCS Homozygous 2p16 Deletion Syndrome, Formerly 2p21 Deletion Syndrome Del(2)(P21) Monosomy 2p21 Atypical Hypotonia-Cystinuria Syndrome Atypical Hcs
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06150	HFM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HFM1	VGNC	VGNC:29832
Mus musculus	HFM1	MGD	MGI:3036246
Felis catus	HFM1	VGNC	VGNC:62805
Rattus norvegicus	HFM1	RGD	RGD:1584010
Canis familiaris	HFM1	VGNC	VGNC:41672
Others	HFM1	NCBI